{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T22:15:39Z","timestamp":1784326539642,"version":"3.55.0"},"reference-count":264,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T00:00:00Z","timestamp":1554940800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,21]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>It\u2019s been over 100 years since the word `gene\u2019 is around and progressively evolving in several scientific directions. Time-to-time technological advancements have heavily revolutionized the field of genomics, especially when it\u2019s about, e.g. triple code development, gene number proposition, genetic mapping, data banks, gene\u2013disease maps, catalogs of human genes and genetic disorders, CRISPR\/Cas9, big data and next generation sequencing, etc. In this manuscript, we present the progress of genomics from pea plant genetics to the human genome project and highlight the molecular, technical and computational developments. Studying genome and epigenome led to the fundamentals of development and progression of human diseases, which includes chromosomal, monogenic, multifactorial and mitochondrial diseases. World Health Organization has classified, standardized and maintained all human diseases, when many academic and commercial online systems are sharing information about genes and linking to associated diseases. To efficiently fathom the wealth of this biological data, there is a crucial need to generate appropriate gene annotation repositories and resources. Our focus has been how many gene\u2013disease databases are available worldwide and which sources are authentic, timely updated and recommended for research and clinical purposes. In this manuscript, we have discussed and compared 43 such databases and bioinformatics applications, which enable users to connect, explore and, if possible, download gene\u2013disease data.<\/jats:p>","DOI":"10.1093\/bib\/bbz038","type":"journal-article","created":{"date-parts":[[2019,3,10]],"date-time":"2019-03-10T04:11:03Z","timestamp":1552191063000},"page":"885-905","source":"Crossref","is-referenced-by-count":49,"title":["100 Years of evolving gene\u2013disease complexities and scientific debutants"],"prefix":"10.1093","volume":"21","author":[{"given":"Saman","family":"Zeeshan","sequence":"first","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruoyun","family":"Xiong","sequence":"first","affiliation":[{"name":"Department of Genetics and Genome Sciences, School of Medicine, University of Connecticut Health Center, Farmington Ave, Farmington, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce T","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Genetics and Genome Sciences, School of Medicine, University of Connecticut Health Center, Farmington Ave, Farmington, CT, USA"},{"name":"Pat and Jim Calhoun Cardiology Center, School of Medicine, University of Connecticut Health Center, Farmington Ave, Farmington, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeeshan","family":"Ahmed","sequence":"first","affiliation":[{"name":"Department of Genetics and Genome Sciences, School of Medicine, University of Connecticut Health Center, Farmington Ave, Farmington, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,4,11]]},"reference":[{"key":"2020051819281344200_ref1","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1126\/science.1058040","article-title":"The sequence of the human genome","volume":"291","author":"Venter","year":"2001","journal-title":"Science"},{"key":"2020051819281344200_ref2","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"International Human Genome Sequencing Consortium","year":"2001","journal-title":"Nature"},{"key":"2020051819281344200_ref3","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1101\/gr.213611.116","article-title":"Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly","volume":"27","author":"Schneider","year":"2017","journal-title":"Genome Res"},{"key":"2020051819281344200_ref4","first-page":"116","article-title":"The biological code","volume":"22","author":"Laird","year":"1970","journal-title":"Am J Hum Genet"},{"key":"2020051819281344200_ref5","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/978-3-642-46200-9_2","article-title":"The biological significance of the genetic code","volume":"1","author":"Woese","year":"1969","journal-title":"Prog Mol Subcell Biol"},{"key":"2020051819281344200_ref6","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1073\/pnas.54.1.71","article-title":"Order in the genetic code","volume":"54","author":"Woese","year":"1965","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref7","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1083\/jcb.3.5.767","article-title":"Molecular structure of deoxyribonucleic acid DNA","volume":"3","author":"Langridge","year":"1957","journal-title":"J Biophys Biochem Cytol"},{"key":"2020051819281344200_ref8","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/j.1749-6632.1979.tb14144.x","article-title":"How genetics got a chemical education","volume":"325","author":"Chargaff","year":"1979","journal-title":"Ann N Y Acad Sci"},{"key":"2020051819281344200_ref9","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1007\/BF00285251","article-title":"Chromatid structure: relationship between DNA content and nucleotide sequence diversity","volume":"32","author":"Laird","year":"1971","journal-title":"Chromosoma"},{"key":"2020051819281344200_ref10","first-page":"401","article-title":"Molecular biology of the cell: 4th edn","volume":"91","author":"Alberts","year":"2003","journal-title":"Ann Bot"},{"issue":"9","key":"2020051819281344200_ref11","first-page":"79","article-title":"DNA sequencing technologies key to the human genome project","volume":"5","author":"Chial","year":"2008","journal-title":"Nature"},{"key":"2020051819281344200_ref12","doi-asserted-by":"crossref","first-page":"IN9","DOI":"10.1016\/S0022-2836(60)80004-6","article-title":"The molecular configuration of deoxyribonucleic acid: I. X-ray diffraction study of a crystalline form of the lithium salt","volume":"2","author":"Langridge","year":"1960","journal-title":"J Mol Biol"},{"key":"2020051819281344200_ref13","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2004-5-4-r25","article-title":"The regulatory content of intergenic DNA shapes genome architecture","volume":"5","author":"Nelson","year":"2004","journal-title":"Genome Biol"},{"key":"2020051819281344200_ref14","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1186\/s13059-017-1363-3","article-title":"Intergenic disease-associated regions are abundant in novel transcripts","volume":"18","author":"Bartonicek","year":"2017","journal-title":"Genome Biol"},{"key":"2020051819281344200_ref15","doi-asserted-by":"crossref","first-page":"19428","DOI":"10.1073\/pnas.0709013104","article-title":"Distinguishing protein-coding and noncoding genes in the human genome","volume":"104","author":"Clamp","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref16","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nature11233","article-title":"Landscape of transcription in human cells","volume":"489","author":"Djebali","year":"2012","journal-title":"Nature"},{"key":"2020051819281344200_ref17","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1126\/science.337.6099.1159","article-title":"ENCODE project writes eulogy for junk DNA","volume":"337","author":"Pennisi","year":"2012","journal-title":"Science"},{"key":"2020051819281344200_ref18","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/1479-7364-5-2-90","article-title":"Naming \u201cjunk\u201d: human non-protein coding RNA (ncRNA) gene nomenclature","volume":"5","author":"Wright","year":"2011","journal-title":"Hum Genomics"},{"issue":"2","key":"2020051819281344200_ref19","article-title":"Non-coding RNA: what is functional and what is junk?","volume":"6","author":"Palazzo","year":"2015","journal-title":"Front Genet"},{"key":"2020051819281344200_ref20","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0959-437X(99)00031-3","article-title":"Interspersed repeats and other mementos of transposable elements in mammalian genomes","volume":"9","author":"Smit","year":"1999","journal-title":"Curr Opin Genet Dev"},{"key":"2020051819281344200_ref21","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/S0959-437X(96)80030-X","article-title":"The origin of interspersed repeats in the human genome","volume":"6","author":"Smit","year":"1996","journal-title":"Curr Opin Genet Dev"},{"key":"2020051819281344200_ref22","doi-asserted-by":"crossref","first-page":"3750","DOI":"10.1093\/nar\/gkw219","article-title":"Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans","volume":"44","author":"Quilez","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref23","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.tig.2014.07.008","article-title":"The overdue promise of short tandem repeat variation for heritability","volume":"30","author":"Press","year":"2014","journal-title":"Trends Genet"},{"key":"2020051819281344200_ref24","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/nrg3684","article-title":"In pursuit of design principles of regulatory sequences","volume":"15","author":"Levo","year":"2014","journal-title":"Nat Rev Genet"},{"key":"2020051819281344200_ref25","doi-asserted-by":"crossref","first-page":"651","DOI":"10.3390\/genes3040651","article-title":"Identifying and characterizing regulatory sequences in the human genome with chromatin accessibility assays","volume":"3","author":"Sheffield","year":"2012","journal-title":"Genes (Basel)"},{"key":"2020051819281344200_ref26","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/S0022-2836(61)80072-7","article-title":"Genetic regulatory mechanisms in the synthesis of proteins","volume":"3","author":"Jacob","year":"1961","journal-title":"J Mol Biol"},{"key":"2020051819281344200_ref27","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1146\/annurev.ge.29.120195.003251","article-title":"Yeast transcriptional regulatory mechanisms","volume":"29","author":"Struhl","year":"1995","journal-title":"Annu Rev Genet"},{"key":"2020051819281344200_ref28","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nature02800","article-title":"Transcriptional regulatory code of a eukaryotic genome","volume":"431","author":"Harbison","year":"2004","journal-title":"Nature"},{"key":"2020051819281344200_ref29","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.molcel.2011.01.015","article-title":"A comprehensive genomic binding map of gene and chromatin regulatory proteins in saccharomyces","volume":"41","author":"Venters","year":"2011","journal-title":"Mol Cell"},{"key":"2020051819281344200_ref30","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1126\/science.1242369","article-title":"Measuring chromatin interaction dynamics on the second time scale at single-copy genes","volume":"342","author":"Poorey","year":"2013","journal-title":"Science"},{"key":"2020051819281344200_ref31","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1093\/nar\/gkt1112","article-title":"Protein\u2013DNA binding: complexities and multi-protein codes","volume":"42","author":"Siggers","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref32","doi-asserted-by":"crossref","first-page":"R754","DOI":"10.1016\/j.cub.2010.06.070","article-title":"Transcriptional enhancers in animal development and evolution","volume":"20","author":"Levine","year":"2010","journal-title":"Curr Biol"},{"key":"2020051819281344200_ref33","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.devcel.2011.06.008","article-title":"Enhancers: from developmental genetics to the genetics of common human disease","volume":"21","author":"Williamson","year":"2011","journal-title":"Dev Cell"},{"issue":"1620","key":"2020051819281344200_ref34","doi-asserted-by":"crossref","first-page":"20120359","DOI":"10.1098\/rstb.2012.0359","article-title":"Functional anatomy of distant-acting mammalian enhancers","volume":"368","author":"Dickel","year":"2013","journal-title":"Phil Trans R Soc B"},{"key":"2020051819281344200_ref35","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/nature08451","article-title":"Genomic views of distant-acting enhancers","volume":"461","author":"Visel","year":"2009","journal-title":"Nature"},{"key":"2020051819281344200_ref36","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1186\/gb-2012-13-1-238","article-title":"Transcriptional enhancers in development and disease","volume":"13","author":"Sakabe","year":"2012","journal-title":"Genome Biol"},{"key":"2020051819281344200_ref37","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/nrg3207","article-title":"Transcription factors: from enhancer binding to developmental control","volume":"13","author":"Spitz","year":"2012","journal-title":"Nature Rev Genet"},{"key":"2020051819281344200_ref38","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1101\/gr.076059.108","article-title":"Two strategies for gene regulation by promoter nucleosomes","volume":"18","author":"Tirosh","year":"2008","journal-title":"Genome Res"},{"key":"2020051819281344200_ref39","doi-asserted-by":"crossref","first-page":"4877","DOI":"10.1093\/nar\/gkt210","article-title":"Differential binding of the related transcription factors Pho4 and Cbf1 can tune the sensitivity of promoters to different levels of an induction signal","volume":"41","author":"Aow","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref40","doi-asserted-by":"crossref","first-page":"2570","DOI":"10.1002\/j.1460-2075.1995.tb07255.x","article-title":"Poly(dA:dT), a ubiquitous promoter element that stimulates transcription via its intrinsic DNA structure","volume":"14","author":"Iyer","year":"1995","journal-title":"EMBO J"},{"key":"2020051819281344200_ref41","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/wdev.21","article-title":"Perspectives on the RNA polymerase II core promoter","volume":"1","author":"Kadonaga","year":"2012","journal-title":"Wiley Interdiscip Rev Dev Biol"},{"key":"2020051819281344200_ref42","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1101\/gr.106732.110","article-title":"TATA is a modular component of synthetic promoters","volume":"20","author":"Mogno","year":"2010","journal-title":"Genome Res"},{"key":"2020051819281344200_ref43","doi-asserted-by":"crossref","first-page":"5569","DOI":"10.1093\/nar\/gkt256","article-title":"Sequence features of yeast and human core promoters that are predictive of maximal promoter activity","volume":"41","author":"Lubliner","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.molcel.2008.08.017","article-title":"Chromatin insulators: regulatory mechanisms and epigenetic inheritance","volume":"32","author":"Bushey","year":"2008","journal-title":"Mol Cell"},{"key":"2020051819281344200_ref45","first-page":"33","volume-title":"Methods Mol Biol","author":"Riethoven","year":"2010"},{"key":"2020051819281344200_ref46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-genom-082509-141651","article-title":"Genomics of long-range regulatory elements","volume":"11","author":"Noonan","year":"2010","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"12","key":"2020051819281344200_ref47","doi-asserted-by":"crossref","first-page":"366","DOI":"10.3390\/genes8120366","article-title":"Current research on non-coding ribonucleic acid (RNA)","volume":"8","author":"Wang","year":"2017","journal-title":"Genes (Basel)"},{"key":"2020051819281344200_ref48","doi-asserted-by":"crossref","first-page":"3915","DOI":"10.1007\/s11033-014-3259-6","article-title":"Regulatory non-coding RNAs: revolutionizing the RNA world","volume":"41","author":"Huang","year":"2014","journal-title":"Mol Biol Rep"},{"key":"2020051819281344200_ref49","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/j.tig.2017.08.002","article-title":"The new RNA world: growing evidence for Long noncoding RNA functionality","volume":"33","author":"Jandura","year":"2017","journal-title":"Trends Genet"},{"key":"2020051819281344200_ref50","doi-asserted-by":"crossref","first-page":"16","DOI":"10.3109\/10409238.2013.844092","article-title":"Gene regulation by non-coding RNAs","volume":"49","author":"Patil","year":"2014","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"2020051819281344200_ref51","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1152\/physrev.00041.2015","article-title":"Non-coding RNAs in development and disease: background, mechanisms, and therapeutic approaches","volume":"96","author":"Beermann","year":"2016","journal-title":"Physiol Rev"},{"key":"2020051819281344200_ref52","first-page":"558","article-title":"Long non-coding RNAs and complex diseases: from experimental results to computational models","volume":"18","author":"Chen","year":"2017","journal-title":"Brief Bioinform"},{"key":"2020051819281344200_ref53","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1101\/gr.135350.111","article-title":"GENCODE: the reference human genome annotation for the ENCODE project","volume":"22","author":"Harrow","year":"2012","journal-title":"Genome Res"},{"key":"2020051819281344200_ref54","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1080\/15476286.2015.1128065","article-title":"CircInteractome: a web tool for exploring circular RNAs and their interacting proteins and microRNAs","volume":"13","author":"Dudekula","year":"2016","journal-title":"RNA Biol"},{"key":"2020051819281344200_ref55","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1083\/jcb.64.2.269","article-title":"Messenger RNA metabolism of animal cells. Possible involvement of untranslated sequences and mRNA-associated proteins","volume":"64","author":"Greenberg","year":"1975","journal-title":"J Cell Biol"},{"key":"2020051819281344200_ref56","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1095\/biolreprod66.2.475","article-title":"Identification of target messenger RNA substrates for the murine deleted in Azoospermia-like RNA-binding protein","volume":"66","author":"Jiao","year":"2002","journal-title":"Biol Reprod"},{"key":"2020051819281344200_ref57","doi-asserted-by":"crossref","first-page":"4970","DOI":"10.1073\/pnas.71.12.4970","article-title":"The general structure of transfer RNA molecules","volume":"71","author":"Kim","year":"1974","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref58","doi-asserted-by":"crossref","first-page":"158","DOI":"10.3389\/fgene.2014.00158","article-title":"Transfer RNA and human disease","volume":"5","author":"Abbott","year":"2014","journal-title":"Front Genet"},{"key":"2020051819281344200_ref59","first-page":"127","article-title":"The natural history of transfer RNA and its interactions with the ribosome","volume":"5","author":"Caetano-Anoll\u00e9s","year":"2014","journal-title":"Front Genet"},{"key":"2020051819281344200_ref60","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.cell.2018.03.006","article-title":"Metazoan MicroRNAs","volume":"173","author":"Bartel","year":"2018","journal-title":"Cell"},{"key":"2020051819281344200_ref61","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1038\/s41467-017-01624-y","article-title":"Muller glial microRNAs are required for the maintenance of glial homeostasis and retinal architecture","volume":"8","author":"Wohl","year":"2017","journal-title":"Nat Commun"},{"key":"2020051819281344200_ref62","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/978-1-4939-7046-9_1","article-title":"Long noncoding RNAs, and their functions in human disease","volume":"1617","author":"Xue","year":"2017","journal-title":"Methods Mol Biol"},{"key":"2020051819281344200_ref63","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1073\/pnas.65.2.349","article-title":"Ribosomal RNA homologies among distantly related organisms","volume":"65","author":"Bendich","year":"1970","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref64","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1093\/bioinformatics\/btp161","article-title":"Identification of ribosomal RNA genes in metagenomic fragments","volume":"25","author":"Huang","year":"2009","journal-title":"Bioinformatics"},{"key":"2020051819281344200_ref65","doi-asserted-by":"crossref","first-page":"119","DOI":"10.2183\/pjab.90.119","article-title":"Ribosomal RNA gene repeats, their stability and cellular senescence","volume":"90","author":"Kobayashi","year":"2014","journal-title":"Proc Jpn Acad Ser B Phys Biol Sci"},{"issue":"10","key":"2020051819281344200_ref66","doi-asserted-by":"crossref","first-page":"e0163340","DOI":"10.1371\/journal.pone.0163340","article-title":"Overexpression of ribosomal RNA in the development of human cervical cancer is associated with rDNA promoter hypomethylation","volume":"11","author":"Zhou","year":"2016","journal-title":"PLoS One"},{"key":"2020051819281344200_ref67","first-page":"4.19.1","article-title":"Ribosomal RNA depletion for efficient use of RNA-Seq capacity","volume":"103","author":"O\u2019Neil","year":"2013","journal-title":"Curr Protoc Mol Biol"},{"key":"2020051819281344200_ref68","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1534\/genetics.112.146704","article-title":"Long noncoding RNAs: past, present, and future","volume":"193","author":"Kung","year":"2013","journal-title":"Genetics"},{"issue":"3","key":"2020051819281344200_ref69","doi-asserted-by":"crossref","first-page":"e0119837","DOI":"10.1371\/journal.pone.0119837","article-title":"Hypoxia-sensitive epigenetic regulation of an antisense-oriented lncRNA controls WT1 expression in myeloid leukemia cells","volume":"10","author":"McCarty","year":"2015","journal-title":"PLoS One"},{"key":"2020051819281344200_ref70","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1186\/s12943-015-0426-x","article-title":"CD90+ liver cancer cells modulate endothelial cell phenotype through the release of exosomes containing H19 lncRNA","volume":"14","author":"Conigliaro","year":"2015","journal-title":"Mol Cancer"},{"key":"2020051819281344200_ref71","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.molcel.2013.08.027","article-title":"The imprinted H19 LncRNA antagonizes Let-7 MicroRNAs","volume":"52","author":"Kallen","year":"2013","journal-title":"Mol Cell"},{"key":"2020051819281344200_ref72","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng1092-93","article-title":"A brief history of gene therapy","volume":"2","author":"Friedmann","year":"1992","journal-title":"Nat Genet"},{"key":"2020051819281344200_ref73","doi-asserted-by":"crossref","first-page":"D54","DOI":"10.1093\/nar\/gki031","article-title":"Entrez gene: gene-centered information at NCBI","volume":"33","author":"Maglott","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref74","doi-asserted-by":"crossref","first-page":"D36","DOI":"10.1093\/nar\/gku1055","article-title":"Gene: a gene-centered information resource at NCBI","volume":"43","author":"Brown","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref75","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1101\/gr.6339607","article-title":"What is a gene, post-ENCODE? History and updated definition","volume":"17","author":"Gerstein","year":"2007","journal-title":"Genome Res"},{"issue":"461524","key":"2020051819281344200_ref76","first-page":"7","article-title":"Evolution of genetic techniques: past, present, and beyond","volume":"2015","author":"Durmaz","year":"2015","journal-title":"Biomed Res Int"},{"key":"2020051819281344200_ref77","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1076\/jmep.27.3.257.2980","article-title":"Historical development of the concept of the gene","volume":"27","author":"Portin","year":"2002","journal-title":"J Med Philos"},{"key":"2020051819281344200_ref78","first-page":"349","article-title":"The history and geography of human genes","volume":"56","author":"Cann","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2020051819281344200_ref79","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"1000 Genomes Project Consortium","year":"2010","journal-title":"Nature"},{"key":"2020051819281344200_ref80","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1038\/275772a0","article-title":"An intervening sequence of the mouse beta-globin major gene shares extensive homology only with beta-globin genes","volume":"275","author":"Miller","year":"1978","journal-title":"Nature"},{"key":"2020051819281344200_ref81","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0092-8674(78)90080-6","article-title":"Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance","volume":"15","author":"Flavell","year":"1978","journal-title":"Cell"},{"key":"2020051819281344200_ref82","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1126\/science.110.2865.543","article-title":"Sickle cell anemia a molecular disease","volume":"110","author":"Pauling","year":"1949","journal-title":"Science"},{"key":"2020051819281344200_ref83","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1038\/201847a0","article-title":"A preliminary estimate of the number of human genes","volume":"201","author":"Vogel","year":"1964","journal-title":"Nature"},{"key":"2020051819281344200_ref84","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s00439-014-1433-5","article-title":"Human genetics\u2019 50th anniversary issue","volume":"133","author":"Hudson","year":"2014","journal-title":"Hum Genet"},{"key":"2020051819281344200_ref85","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s00439-006-0298-7","article-title":"Friedrich Vogel 1925\u20132006","volume":"120","author":"Propping","year":"2006","journal-title":"Hum Genet"},{"key":"2020051819281344200_ref86","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/s00439-006-0297-8","article-title":"Prof. Dr. Med. Dr. H.C. Friedrich Vogel (1925\u20132006)","volume":"120","author":"Sperling","year":"2006","journal-title":"Hum Genet"},{"issue":"4","key":"2020051819281344200_ref87","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0968-0004(78)95251-9","article-title":"Discontinuous genes","volume":"3","author":"Flavell","year":"1978","journal-title":"Trends Biochem Sci"},{"key":"2020051819281344200_ref88","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1161\/CIRCULATIONAHA.112.139717","article-title":"Titin is a major human disease gene","volume":"127","author":"LeWinter","year":"2013","journal-title":"Circulation"},{"key":"2020051819281344200_ref89","doi-asserted-by":"crossref","first-page":"12688","DOI":"10.1073\/pnas.2133733100","article-title":"Damped elastic recoil of the titin spring in myofibrils of human myocardium","volume":"100","author":"Opitz","year":"2003","journal-title":"Proc Natl Acad Sci"},{"key":"2020051819281344200_ref90","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1101\/gr.146175.112","article-title":"Decoding the human genome","volume":"22","author":"Frazer","year":"2012","journal-title":"Genome Res"},{"issue":"1","key":"2020051819281344200_ref91","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s12918-016-0280-5","article-title":"DNetDB: the human disease network database based on dysfunctional regulation mechanism","volume":"10","author":"Yang","year":"2016","journal-title":"BMC Syst Biol"},{"issue":"5","key":"2020051819281344200_ref92","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/nrg.2018.4","article-title":"Integrative omics for health and disease","volume":"19","author":"Karczewski","year":"2018","journal-title":"Nat Rev Genet"},{"key":"2020051819281344200_ref93","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/sj.ejhg.5201585","article-title":"A text-mining analysis of the human phenome","volume":"14","author":"van","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"2020051819281344200_ref94","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.cell.2013.08.030","article-title":"A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk","volume":"155","author":"Blair","year":"2013","journal-title":"Cell"},{"issue":"4","key":"2020051819281344200_ref95","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1136\/svn-2017-000101","article-title":"Artificial intelligence in healthcare: past, present and future","volume":"2","author":"Jiang","year":"2017","journal-title":"Stroke Vasc Neurol"},{"key":"2020051819281344200_ref96","doi-asserted-by":"crossref","first-page":"8685","DOI":"10.1073\/pnas.0701361104","article-title":"The human disease network","volume":"104","author":"Goh","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref97","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/s13104-015-1211-z","article-title":"DeCoaD: determining correlations among diseases using protein interaction networks","volume":"8","author":"Hamaneh","year":"2015","journal-title":"BMC Res Notes"},{"key":"2020051819281344200_ref98","doi-asserted-by":"crossref","first-page":"e4346","DOI":"10.1371\/journal.pone.0004346","article-title":"A pathway-based view of human diseases and disease relationships","volume":"4","author":"Li","year":"2009","journal-title":"PLoS One"},{"key":"2020051819281344200_ref99","doi-asserted-by":"crossref","first-page":"5676","DOI":"10.1038\/ncomms6676","article-title":"A chemo-centric view of human health and disease","volume":"5","author":"Duran-Frigola","year":"2014","journal-title":"Nat Commun"},{"key":"2020051819281344200_ref100","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/463596b","article-title":"Project set to map marks on genome","volume":"463","author":"Abbott","year":"2010","journal-title":"Nature"},{"key":"2020051819281344200_ref101","first-page":"67","article-title":"Genetic regulation of cancer","volume":"1","author":"Chial","year":"2008","journal-title":"Nature Education."},{"key":"2020051819281344200_ref102","first-page":"18","article-title":"Birth defects: causes and statistics","volume":"1","author":"Lobo","year":"2008","journal-title":"Nature Education"},{"key":"2020051819281344200_ref103","first-page":"68","article-title":"Chromosome abnormalities and cancer cytogenetics","volume":"1","author":"Lobo","year":"2008","journal-title":"Nature Education"},{"key":"2020051819281344200_ref104","first-page":"937","article-title":"Incidence of chromosome disorders","volume":"25","author":"Valentine","year":"1979","journal-title":"Can Fam Physician"},{"key":"2020051819281344200_ref105","first-page":"118","article-title":"Chromosomal and multifactorial genetic disorders with oral manifestations","volume":"6","author":"Patil","year":"2014","journal-title":"J Int Oral Health"},{"key":"2020051819281344200_ref106","first-page":"159","article-title":"Disorders caused by chromosome abnormalities","volume":"3","author":"Theisen","year":"2010","journal-title":"Appl Clin Genet"},{"key":"2020051819281344200_ref107","first-page":"63","article-title":"Mendelian genetics: patterns of inheritance and single-gene disorders","volume":"1","author":"Chial","year":"2008","journal-title":"Nature Education"},{"key":"2020051819281344200_ref108","doi-asserted-by":"crossref","first-page":"133","DOI":"10.2147\/TACG.S18675","article-title":"Disease-modifying genes and monogenic disorders: experience in cystic fibrosis","volume":"7","author":"Gallati","year":"2014","journal-title":"Appl Clin Genet"},{"key":"2020051819281344200_ref109","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1136\/jmg.14.5.316","article-title":"Monogenic disorders","volume":"14","author":"Carter","year":"1977","journal-title":"J Med Genet"},{"key":"2020051819281344200_ref110","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s00439-008-0560-2","article-title":"Identifying modifier genes of monogenic disease: strategies and difficulties","volume":"124","author":"G\u00e9nin","year":"2008","journal-title":"Hum Genet"},{"key":"2020051819281344200_ref111","doi-asserted-by":"crossref","first-page":"792","DOI":"10.3390\/genes5030792","article-title":"The revolution in human monogenic disease mapping","volume":"5","author":"Duncan","year":"2014","journal-title":"Genes (Basel)"},{"key":"2020051819281344200_ref112","doi-asserted-by":"crossref","first-page":"7","DOI":"10.31887\/DCNS.2001.3.1\/seantonarakis","article-title":"The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes","volume":"3","author":"Antonarakis","year":"2001","journal-title":"Dialogues Clin Neurosci"},{"key":"2020051819281344200_ref113","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1001\/jamaneurol.2016.3388","article-title":"Genome editing of monogenic neuromuscular diseases: a systematic review","volume":"73","author":"Long","year":"2016","journal-title":"JAMA Neurol"},{"key":"2020051819281344200_ref114","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.ecl.2008.07.003","article-title":"Lessons from extreme human obesity: monogenic disorders","volume":"37","author":"Ranadive","year":"2008","journal-title":"Endocrinol Metab Clin North Am"},{"key":"2020051819281344200_ref115","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1097\/MOP.0b013e3283402e21","article-title":"Mitochondrial genetic diseases","volume":"22","author":"Falk","year":"2010","journal-title":"Curr Opin Pediatr"},{"key":"2020051819281344200_ref116","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/gim.2014.177","article-title":"Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society","volume":"17","author":"Parikh","year":"2014","journal-title":"Genetics in medicine: official journal of the American College of Medical Genetics"},{"key":"2020051819281344200_ref117","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.pediatrneurol.2007.12.001","article-title":"Presentation and diagnosis of mitochondrial disorders in children","volume":"38","author":"Koenig","year":"2008","journal-title":"Pediatr Neurol"},{"key":"2020051819281344200_ref118","doi-asserted-by":"crossref","first-page":"13","DOI":"10.4103\/0971-5916.154489","article-title":"Mitochondrial disorders: challenges in diagnosis & treatment","volume":"141","author":"Khan","year":"2015","journal-title":"Indian J Med Res"},{"key":"2020051819281344200_ref119","first-page":"5","article-title":"Multifactorial inheritance and genetic disease","volume":"1","author":"Lobo","year":"2008","journal-title":"Nature Education"},{"issue":"Spring","key":"2020051819281344200_ref120","first-page":"1d","article-title":"ICD-9 to ICD-10: evolution, revolution, and current debates in the United States","volume":"10","author":"Topaz","year":"2013","journal-title":"Perspect Health Inf Manag"},{"key":"2020051819281344200_ref121","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1136\/amiajnl-2013-002116","article-title":"ICD-10 codes used to identify adverse drug events in administrative data: a systematic review","volume":"21","author":"Hohl","year":"2013","journal-title":"J Am Med Inform Assoc"},{"key":"2020051819281344200_ref122","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1136\/jamia.2009.001230","article-title":"International classification of diseases, 10th edition, clinical modification and procedure coding system: descriptive overview of the next generation HIPAA code sets","volume":"17","author":"Steindel","year":"2010","journal-title":"J Am Med Inform Assoc"},{"key":"2020051819281344200_ref123","first-page":"32","article-title":"International statistical classification of diseases and related health problems. Tenth revision","volume":"41","author":"Bramer","year":"1988","journal-title":"World Health Stat Q"},{"key":"2020051819281344200_ref124","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1002\/sim.1511","article-title":"Disease classification: measuring the effect of the tenth revision of the international classification of diseases on cause-of-death data in the United States","volume":"22","author":"Anderson","year":"2003","journal-title":"Stat Med"},{"key":"2020051819281344200_ref125","first-page":"99","article-title":"A quick review of ICD-10-CM","volume":"70","author":"Pickett","year":"1999","journal-title":"J AHIMA"},{"key":"2020051819281344200_ref126","volume-title":"Genomes","author":"Brown","year":"2002"},{"key":"2020051819281344200_ref127","first-page":"47","article-title":"Experiments in plant hybridization","volume":"3","author":"Mendel","year":"1901","journal-title":"Sch Publ"},{"key":"2020051819281344200_ref128","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s00439-007-0433-0","article-title":"Discovering DNA: Friedrich Miescher and the early years of nucleic acid research","volume":"122","author":"Dahm","year":"2008","journal-title":"Hum Genet"},{"issue":"2","key":"2020051819281344200_ref129","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1084\/jem.79.2.137","article-title":"Studies on the chemical nature of the substance inducing transformation of pneumococcal types","volume":"79","author":"Avery","year":"1994","journal-title":"J Exp Med"},{"key":"2020051819281344200_ref130","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1073\/pnas.60.3.921","article-title":"Separation of B. Subtilis DNA into complementary strands. 3. Direct analysis","volume":"60","author":"Rudner","year":"1968","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref131","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1101\/SQB.1966.031.01.008","article-title":"The RNA code and protein synthesis","volume":"31","author":"Nirenberg","year":"1966","journal-title":"Cold Spring Harb Symp Quant Biol"},{"key":"2020051819281344200_ref132","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/jez.1400140104","article-title":"The linear arrangement of six sex-linked factors in drosophila, as shown by their mode of association","volume":"14","author":"Sturtevant","year":"1913","journal-title":"J Exp Zool"},{"key":"2020051819281344200_ref133","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1073\/pnas.61.3.949","article-title":"Probable assignment of the Duffy blood group locus to chromosome 1 in man","volume":"61","author":"Donahue","year":"1968","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref134","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/306234a0","article-title":"A polymorphic DNA marker genetically linked to Huntington\u2018s disease","volume":"306","author":"Gusella","year":"1983","journal-title":"Nature"},{"key":"2020051819281344200_ref135","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1021\/bi9818319","article-title":"PHA synthase from Chromatium vinosum: cysteine 149 is involved in covalent catalysis","volume":"38","author":"M\u00fch","year":"1999","journal-title":"Biochemistry"},{"key":"2020051819281344200_ref136","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000132167","article-title":"The 1985 human gene map and human gene mapping in 1985","volume":"40","author":"de la","year":"1985","journal-title":"Cytogenet Cell Genet"},{"key":"2020051819281344200_ref137","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/322011a0","article-title":"The proper study of mankind","volume":"322","author":"Robertson","year":"1986","journal-title":"Nature"},{"issue":"11","key":"2020051819281344200_ref138","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1073\/pnas.27.11.499","article-title":"Genetic control of biochemical reactions in Neurospora","volume":"27","author":"Beadle","year":"1941","journal-title":"Natl Acad Sci"},{"key":"2020051819281344200_ref139","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/227561a0","article-title":"Central dogma of molecular biology","volume":"227","author":"Crick","year":"1970","journal-title":"Nature"},{"key":"2020051819281344200_ref140","volume-title":"Karp\u2019s Cell and Molecular Biology: Concepts and Experiments","author":"Iwasa","year":"2015"},{"key":"2020051819281344200_ref141","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/0092-8674(77)90272-0","article-title":"Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids","volume":"12","author":"Berk","year":"1977","journal-title":"Cell"},{"issue":"20","key":"2020051819281344200_ref142","first-page":"332","article-title":"A spliced sequence at the 5\u2032-terminus of adenovirus late mRNA","volume":"12","author":"Berget","year":"1997","journal-title":"Brookhaven Symp Biol"},{"key":"2020051819281344200_ref143","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/0092-8674(77)90294-X","article-title":"A map of cytoplasmic RNA transcripts from lytic adenovirus type 2, determined by electron microscopy of RNA:DNA hybrids","volume":"11","author":"Chow","year":"1977","journal-title":"Cell"},{"key":"2020051819281344200_ref144","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1038\/271501a0","article-title":"Why genes in pieces?","volume":"271","author":"Gilbert","year":"1978","journal-title":"Nature"},{"key":"2020051819281344200_ref145","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1146\/annurev.ge.21.120187.001321","article-title":"Alternative promoters in developmental gene expression","volume":"21","author":"Schibler","year":"1987","journal-title":"Annu Rev Genet"},{"key":"2020051819281344200_ref146","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis","volume":"98","author":"Southern","year":"1975","journal-title":"J Mol Biol"},{"key":"2020051819281344200_ref147","doi-asserted-by":"crossref","first-page":"IN1","DOI":"10.1016\/S0022-2836(65)80104-8","article-title":"A two-dimensional fractionation procedure for radioactive nucleotides","volume":"13","author":"Sanger","year":"1965","journal-title":"J Mol Biol"},{"key":"2020051819281344200_ref148","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1214\/12-BA729","article-title":"Bayesian graphical lasso models and eficient posterior computation","volume":"7","author":"Wang","year":"2012","journal-title":"Bayesian Anal"},{"key":"2020051819281344200_ref149","doi-asserted-by":"crossref","first-page":"3960","DOI":"10.1073\/pnas.0230489100","article-title":"Sequence information can be obtained from single DNA molecules","volume":"100","author":"Braslavsky","year":"2003","journal-title":"Proc Natl Acad Sci"},{"key":"2020051819281344200_ref150","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1126\/science.2997931","article-title":"Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker","volume":"230","author":"Tsui","year":"1985","journal-title":"Science"},{"key":"2020051819281344200_ref151","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1159\/000132144","article-title":"Cystic fibrosis: analysis of linkage of the disease locus to red cell and plasma protein markers","volume":"39","author":"Tsui","year":"1985","journal-title":"Cytogenet Genome Res"},{"key":"2020051819281344200_ref152","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.tibtech.2013.04.004","article-title":"ZFN, TALEN, and CRISPR\/Cas-based methods for genome engineering","volume":"31","author":"Gaj","year":"2013","journal-title":"Trends Biotechnol"},{"key":"2020051819281344200_ref153","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/446145a","article-title":"Drivers and passengers","volume":"446","author":"Haber","year":"2007","journal-title":"Nature"},{"key":"2020051819281344200_ref154","doi-asserted-by":"crossref","first-page":"D789","DOI":"10.1093\/nar\/gku1205","article-title":"OMIM.org: online Mendelian inheritance in man (OMIM\u00ae), an online catalog of human genes and genetic disorders","volume":"43","author":"Amberger","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref155","doi-asserted-by":"crossref","first-page":"D37","DOI":"10.1093\/nar\/gkw1070","article-title":"GenBank","volume":"45","author":"Benson","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref156","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1126\/science.aan4717","article-title":"Genomic databases: a WHO affair","volume":"356","author":"Antonarakis","year":"2017","journal-title":"Science"},{"key":"2020051819281344200_ref157","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi0101s50","article-title":"The importance of biological databases in biological discovery","volume":"50","author":"Baxevanis","year":"2015","journal-title":"Curr Protoc Bioinforma"},{"key":"2020051819281344200_ref158","doi-asserted-by":"crossref","DOI":"10.1093\/database\/bav006","article-title":"PathCards: multi-source consolidation of human biological pathways","volume":"2015","author":"Belinky","year":"2015","journal-title":"Database"},{"issue":"1","key":"2020051819281344200_ref159","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.gpb.2015.01.006","article-title":"Biological databases for human research","volume":"13","author":"Zou","year":"2015","journal-title":"Genomics Proteomics Bioinformatics"},{"key":"2020051819281344200_ref160","doi-asserted-by":"crossref","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref161","doi-asserted-by":"crossref","first-page":"E2375","DOI":"10.1002\/humu.22163","article-title":"CNVD: text mining-based copy number variation in disease database","volume":"33","author":"Qiu","year":"2012","journal-title":"Hum Mutat"},{"key":"2020051819281344200_ref162","doi-asserted-by":"crossref","first-page":"D1071","DOI":"10.1093\/nar\/gku1011","article-title":"Disease ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data","volume":"43","author":"Kibbe","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref163","doi-asserted-by":"crossref","first-page":"D78","DOI":"10.1093\/nar\/gkx920","article-title":"DiseaseEnhancer: a resource of human disease-associated enhancer catalog","volume":"46","author":"Zhang","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref164","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ymeth.2014.11.020","article-title":"DISEASES: text mining and data integration of disease-gene associations","volume":"74","author":"Pletscher-Frankild","year":"2015","journal-title":"Methods"},{"key":"2020051819281344200_ref165","article-title":"The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency","volume":"41","author":"Rubinstein","year":"2013","journal-title":"Nucleic Acids Res"},{"issue":"Database issue","key":"2020051819281344200_ref166","doi-asserted-by":"crossref","first-page":"D98","DOI":"10.1093\/nar\/gkn714","article-title":"miR2Disease: a manually curated database for microRNA deregulation in human disease","volume":"37","author":"Jiang","year":"2009","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"2020051819281344200_ref167","doi-asserted-by":"crossref","first-page":"D833","DOI":"10.1093\/nar\/gkw943","article-title":"DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants","volume":"45","author":"Pi\u00f1ero","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref168","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"Stenson","year":"2017","journal-title":"Hum Genet"},{"key":"2020051819281344200_ref169","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1093\/bioinformatics\/btq028","article-title":"Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar","volume":"26","author":"Mottaz","year":"2010","journal-title":"Bioinformatics"},{"key":"2020051819281344200_ref170","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1186\/s12864-017-3911-3","article-title":"eDGAR: a database of disease-gene associations with annotated relationships among genes","volume":"18","author":"Babbi","year":"2017","journal-title":"BMC Genomics"},{"key":"2020051819281344200_ref171","doi-asserted-by":"crossref","first-page":"baq020","DOI":"10.1093\/database\/baq020","article-title":"GeneCards version 3: the human gene integrator","volume":"2010","author":"Safran","year":"2010","journal-title":"Database (Oxford)"},{"key":"2020051819281344200_ref172","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1186\/1479-7364-5-6-709","article-title":"In-silico human genomics with GeneCards","volume":"5","author":"Stelzer","year":"2011","journal-title":"Hum Genomics"},{"key":"2020051819281344200_ref173","doi-asserted-by":"crossref","first-page":"bat018","DOI":"10.1093\/database\/bat018","article-title":"MalaCards: an integrated compendium for diseases and their annotation","volume":"2013","author":"Rappaport","year":"2013","journal-title":"Database"},{"key":"2020051819281344200_ref174","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1186\/s12864-016-2722-2","article-title":"VarElect: the phenotype-based variation prioritizer of the GeneCards suite","volume":"17","author":"Stelzer","year":"2016","journal-title":"BMC Genomics"},{"key":"2020051819281344200_ref175","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi0124s47","article-title":"MalaCards: a comprehensive automatically-mined database of human diseases","volume":"47","author":"Rappaport","year":"2014","journal-title":"Curr Protoc Bioinforma"},{"issue":"D1","key":"2020051819281344200_ref176","doi-asserted-by":"crossref","first-page":"D877","DOI":"10.1093\/nar\/gkw1012","article-title":"MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search","volume":"45","author":"Rappaport","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref177","doi-asserted-by":"crossref","first-page":"baw030","DOI":"10.1093\/database\/baw030","article-title":"Genic insights from integrated human proteomics in GeneCards","volume":"2016","author":"Fishilevich","year":"2016","journal-title":"Database"},{"key":"2020051819281344200_ref178","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1089\/omi.2015.0168","article-title":"GeneAnalytics: an integrative gene set analysis tool for next generation sequencing, RNAseq and microarray data","volume":"20","author":"Ben-Ari Fuchs","year":"2016","journal-title":"Omi A J Integr Biol"},{"key":"2020051819281344200_ref179","doi-asserted-by":"crossref","first-page":"14209","DOI":"10.1038\/ncomms14209","article-title":"A human immunodeficiency syndrome caused by mutations in CARMIL2","volume":"8","author":"Schober","year":"2017","journal-title":"Nat Commun"},{"issue":"1","key":"2020051819281344200_ref180","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1093\/nar\/30.1.38","article-title":"The Ensembl genome database project","volume":"30","author":"Hubbard","year":"2002","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"2020051819281344200_ref181","doi-asserted-by":"crossref","first-page":"D745","DOI":"10.1093\/nar\/gky1113","article-title":"Ensembl 2019","volume":"47","author":"Cunningham","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref182","doi-asserted-by":"crossref","first-page":"D7","DOI":"10.1093\/nar\/gkt1146","article-title":"Database resources of the National Center for biotechnology information","volume":"42","author":"Resource Coordinators","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"18","key":"2020051819281344200_ref183","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1001\/jama.2018.14900","article-title":"Distinguishing variant pathogenicity from genetic diagnosis: how to know whether a variant causes a condition","volume":"320","author":"Biesecker","year":"2018","journal-title":"JAMA"},{"key":"2020051819281344200_ref184","article-title":"GENCODE reference annotation for the human and mouse genomes","author":"Frankish","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref185","doi-asserted-by":"crossref","article-title":"Precision medicine advancements using whole genome sequencing, noninvasive whole body imaging, and functional diagnostics","author":"Hou","DOI":"10.1101\/497560"},{"issue":"14","key":"2020051819281344200_ref186","doi-asserted-by":"crossref","first-page":"3686","DOI":"10.1073\/pnas.1706096114","article-title":"Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults","volume":"115","author":"Perkins","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref187","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-med-041316-090905","article-title":"Precision medicine: functional advancements","volume":"69","author":"Caskey","year":"2018","journal-title":"Annu Rev Med"},{"key":"2020051819281344200_ref188","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0170905","article-title":"Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: a prospective pilot randomized controlled trial","volume":"12","author":"Elliott","year":"2017","journal-title":"PLoS One."},{"key":"2020051819281344200_ref189","doi-asserted-by":"crossref","first-page":"28","DOI":"10.4037\/aacnacc2018521","article-title":"Genomics and precision medicine: implications for critical care","volume":"29","author":"Kessler","year":"2018","journal-title":"AACN Adv Crit Care"},{"issue":"3","key":"2020051819281344200_ref190","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.amepre.2015.08.031","article-title":"Precision public health for the era of precision medicine","volume":"50","author":"Khoury","year":"2016","journal-title":"Am J Prev Med"},{"key":"2020051819281344200_ref191","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1056\/NEJMp1500523","article-title":"A new initiative on precision medicine","volume":"372","author":"Collins","year":"2015","journal-title":"N Engl J Med"},{"issue":"5","key":"2020051819281344200_ref192","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jim-2018-000722","article-title":"Advanced body composition assessment: from body mass index to body composition profiling","volume":"66","author":"Borga","year":"2018","journal-title":"J Invest Med"},{"key":"2020051819281344200_ref193","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/nbt.3870","article-title":"A wellness study of 108 individuals using personal, dense, dynamic data clouds","volume":"35","author":"Price","year":"2017","journal-title":"Nat Biotechnol"},{"key":"2020051819281344200_ref194","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1093\/bib\/bbw114","article-title":"Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences","volume":"19","author":"Manzoni","year":"2018","journal-title":"Brief Bioinform"},{"key":"2020051819281344200_ref195","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/prca.201400156","article-title":"Clinical proteomics: promises, challenges and limitations of affinity arrays","volume":"9","author":"Betzen","year":"2015","journal-title":"Proteomics Clin Appl"},{"key":"2020051819281344200_ref196","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1038\/s41591-018-0237-x","article-title":"Longitudinal personal DNA methylome dynamics in a human with a chronic condition","volume":"24","author":"Chen","year":"2018","journal-title":"Nat Med"},{"key":"2020051819281344200_ref197","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/ng.3809","article-title":"Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites","volume":"49","author":"Long","year":"2017","journal-title":"Nat Genet"},{"key":"2020051819281344200_ref198","doi-asserted-by":"crossref","first-page":"E4901","DOI":"10.1073\/pnas.1508425112","article-title":"Plasma metabolomic profiles enhance precision medicine for volunteers of normal health","volume":"112","author":"Guo","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref199","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/icb.2015.106","article-title":"Single-cell technologies are revolutionizing the approach to rare cells","volume":"94","author":"Proserpio","year":"2016","journal-title":"Immunol Cell Biol"},{"key":"2020051819281344200_ref200","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/j.molcel.2015.05.005","article-title":"Advances and applications of single-cell sequencing technologies","volume":"58","author":"Wang","year":"2015","journal-title":"Mol Cell"},{"key":"2020051819281344200_ref201","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.omtm.2018.07.003","article-title":"An introduction to the analysis of single-cell RNA-sequencing data","volume":"10","author":"AlJanahi","year":"2018","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2020051819281344200_ref202","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s13073-017-0467-4","article-title":"A practical guide to single-cell RNA-sequencing for biomedical research and clinical applications","volume":"9","author":"Haque","year":"2017","journal-title":"Genome Med"},{"key":"2020051819281344200_ref203","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3389\/fonc.2014.00007","article-title":"Current challenges in the bioinformatics of single cell genomics","volume":"4","author":"Ning","year":"2014","journal-title":"Front Oncol"},{"key":"2020051819281344200_ref204","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1101\/gr.190595.115","article-title":"Defining cell types and states with single-cell genomics","volume":"25","author":"Trapnell","year":"2015","journal-title":"Genome Res"},{"key":"2020051819281344200_ref205","doi-asserted-by":"crossref","first-page":"595","DOI":"10.12688\/f1000research.11290.1","article-title":"Gene length and detection bias in single cell RNA sequencing protocols","volume":"6","author":"Phipson","year":"2017","journal-title":"F1000Res"},{"key":"2020051819281344200_ref206","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s12276-018-0071-8","article-title":"Single-cell RNA sequencing technologies and bioinformatics pipelines","volume":"50","author":"Hwang","year":"2018","journal-title":"Exp Mol Med"},{"key":"2020051819281344200_ref207","doi-asserted-by":"crossref","first-page":"11901","DOI":"10.1073\/pnas.1613365113","article-title":"Deep sequencing of 10,000 human genomes","volume":"113","author":"Telenti","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref208","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gpb.2015.08.002","article-title":"PacBio sequencing and its applications","volume":"13","author":"Rhoads","year":"2015","journal-title":"Genomics Proteomics Bioinformatics"},{"key":"2020051819281344200_ref209","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1093\/nar\/gky066","article-title":"Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics","volume":"46","author":"Ardui","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2020051819281344200_ref210","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1126\/science.1162986","article-title":"Real-time DNA sequencing from single polymerase molecules","volume":"323","author":"Eid","year":"2009","journal-title":"Science"},{"key":"2020051819281344200_ref211","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/gigascience\/gix085","article-title":"De novo PacBio long-read and phased avian genome assemblies correct and add to reference genes generated with intermediate and short reads","volume":"6","author":"Korlach","year":"2017","journal-title":"Gigascience"},{"key":"2020051819281344200_ref212","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s12864-017-4408-9","article-title":"Pacbio sequencing of copper-tolerant Xanthomonas citri reveals presence of a chimeric plasmid structure and provides insights into reassortment and shuffling of transcription activator-like effectors among X. Citri strains","volume":"19","author":"Gochez","year":"2018","journal-title":"BMC Genomics"},{"key":"2020051819281344200_ref213","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.3389\/fmicb.2017.01448","article-title":"PacBio but not Illumina technology can achieve fast, accurate and complete closure of the high GC, complex Burkholderia pseudomallei two-chromosome genome","volume":"8","author":"Teng","year":"2017","journal-title":"Front Microbiol"},{"key":"2020051819281344200_ref214","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s13577-017-0168-8","article-title":"Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area","volume":"30","author":"Nakano","year":"2017","journal-title":"Hum Cell"},{"key":"2020051819281344200_ref215","doi-asserted-by":"crossref","first-page":"100","DOI":"10.12688\/f1000research.10571.2","article-title":"Comprehensive comparison of Pacific biosciences and Oxford Nanopore technologies and their applications to transcriptome analysis","volume":"6","author":"Weirather","year":"2017","journal-title":"F1000Res"},{"key":"2020051819281344200_ref216","doi-asserted-by":"crossref","first-page":"10931","DOI":"10.1038\/s41598-018-29334-5","article-title":"Evaluation of Oxford Nanopore's MinION sequencing device for microbial whole genome sequencing applications","volume":"8","author":"Tyler","year":"2018","journal-title":"Sci Rep"},{"key":"2020051819281344200_ref217","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1038\/nbt.1495","article-title":"The potential and challenges of nanopore sequencing","volume":"26","author":"Branton","year":"2018","journal-title":"Nat Biotechnol"},{"issue":"1","key":"2020051819281344200_ref218","doi-asserted-by":"crossref","first-page":"18022","DOI":"10.1038\/s41598-017-18364-0","article-title":"Nanopore DNA sequencing and genome assembly on the International Space Station","volume":"7","author":"Castro-Wallace","year":"2017","journal-title":"Sci Rep"},{"key":"2020051819281344200_ref219","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/nbt.4060","article-title":"Nanopore sequencing and assembly of a human genome with ultra-long reads","volume":"36","author":"Jain","year":"2018","journal-title":"Nat Biotechnol"},{"key":"2020051819281344200_ref220","doi-asserted-by":"crossref","first-page":"157","DOI":"10.4103\/sni.sni_55_18","article-title":"MinION rapid sequencing: review of potential applications in neurosurgery","volume":"9","author":"Patel","year":"2018","journal-title":"Surg Neurol Int"},{"key":"2020051819281344200_ref221","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0194366","article-title":"Early MinION\u2122 nanopore single-molecule sequencing technology enables the characterization of hepatitis B virus genetic complexity in clinical samples","volume":"13","author":"Sauvage","year":"2018","journal-title":"PLoS One"},{"key":"2020051819281344200_ref222","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1101\/gr.221184.117","article-title":"MinION-based long-read sequencing and assembly extends the Caenorhabditis elegans reference genome","volume":"28","author":"Tyson","year":"2018","journal-title":"Genome Res"},{"issue":"9","key":"2020051819281344200_ref223","doi-asserted-by":"crossref","first-page":"e0163059","DOI":"10.1371\/journal.pone.0163059","article-title":"Assembly of the complete Sitka spruce chloroplast genome using 10X Genomics' GemCode sequencing data","volume":"11","author":"Coombe","year":"2016","journal-title":"PLoS One"},{"key":"2020051819281344200_ref224","doi-asserted-by":"crossref","first-page":"R227","DOI":"10.1093\/hmg\/ddq416","article-title":"A window into third-generation sequencing","volume":"19","author":"Schadt","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"R2","key":"2020051819281344200_ref225","doi-asserted-by":"crossref","first-page":"R234","DOI":"10.1093\/hmg\/ddy177","article-title":"Long reads: their purpose and place","volume":"27","author":"Pollard","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2020051819281344200_ref226","doi-asserted-by":"crossref","first-page":"949","DOI":"10.7150\/ijbs.19627","article-title":"Current progresses of single cell DNA sequencing in breast cancer research","volume":"13","author":"Liu","year":"2017","journal-title":"Int J Biol Sci"},{"key":"2020051819281344200_ref227","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1126\/science.aac8624","article-title":"Health and population effects of rare gene knockouts in adult humans with related parents","volume":"352","author":"Narasimhan","year":"2016","journal-title":"Science"},{"key":"2020051819281344200_ref228","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1016\/j.cell.2016.11.048","article-title":"A multiplexed single-cell CRISPR screening platform enables systematic dissection of the unfolded protein response","volume":"167","author":"Adamson","year":"2016","journal-title":"Cell"},{"key":"2020051819281344200_ref229","doi-asserted-by":"crossref","first-page":"160025","DOI":"10.1038\/sdata.2016.25","article-title":"Extensive sequencing of seven human genomes to characterize benchmark reference materials","volume":"3","author":"Zook","year":"2016","journal-title":"Sci Data"},{"key":"2020051819281344200_ref230","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/gm462","article-title":"Whole genome sequencing in support of wellness and health maintenance","volume":"5","author":"Patel","year":"2013","journal-title":"Genome Med"},{"key":"2020051819281344200_ref231","doi-asserted-by":"crossref","first-page":"E124","DOI":"10.1503\/cmaj.180076","article-title":"Whole genome sequencing in the clinic: empowerment or too much information?","volume":"190","author":"Berberich","year":"2018","journal-title":"CMAJ"},{"key":"2020051819281344200_ref232","first-page":"65","article-title":"Opportunities and challenges of whole-genome and -exome sequencing","volume":"89","author":"Petersen","year":"2017","journal-title":"BMC Genet"},{"key":"2020051819281344200_ref233","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1097\/PAT.0000000000000235","article-title":"Whole genome sequencing in clinical and public health microbiology","volume":"47","author":"Kwong","year":"2015","journal-title":"Pathology"},{"key":"2020051819281344200_ref234","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1159\/000438732","article-title":"The benefits of whole-genome sequencing now and in the future","volume":"6","author":"Khromykh","year":"2015","journal-title":"Mol Syndromol"},{"key":"2020051819281344200_ref235","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ygeno.2015.11.003","article-title":"The sequence of sequencers: the history of sequencing DNA","volume":"107","author":"Heather","year":"2016","journal-title":"Genomics"},{"key":"2020051819281344200_ref236","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1111\/eva.12178","article-title":"A field guide to whole-genome sequencing, assembly and annotation","volume":"7","author":"Ekblom","year":"2014","journal-title":"Evol Appl"},{"key":"2020051819281344200_ref237","doi-asserted-by":"crossref","first-page":"e4040","DOI":"10.7717\/peerj.4040","article-title":"I-ATAC: interactive pipeline for the management and pre-processing of ATAC-seq samples","volume":"5","author":"Ahmed","year":"2017","journal-title":"PeerJ"},{"key":"2020051819281344200_ref238","first-page":"e2942v1","article-title":"A standalone software platform for the interactive management and pre-processing of ATAC-seq samples","volume":"5","author":"Ahmed","year":"2017","journal-title":"PeerJ Preprints"},{"key":"2020051819281344200_ref239","article-title":"MAV-seq: management, analysis and visualization of sequence data","author":"Ahmed","journal-title":"Nat Methods"},{"key":"2020051819281344200_ref240","article-title":"Match & scratch barcodes: tools for the demultiplexing and extraction of target sequences from PacBio amplicon data","author":"Ahmed","journal-title":"Nat Methods"},{"key":"2020051819281344200_ref241","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1080\/14737159.2017.1282822","article-title":"Genomics pipelines and data integration: challenges and opportunities in the research setting","volume":"17","author":"Davis-Turak","year":"2017","journal-title":"Expert Rev Mol Diagn"},{"key":"2020051819281344200_ref242","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.3201\/eid2309.170416","article-title":"Bioinformatic analyses of whole-genome sequence data in a public health laboratory","volume":"23","author":"Oakeson","year":"2017","journal-title":"Emerg Infect Dis"},{"key":"2020051819281344200_ref243","first-page":"530","article-title":"A review of bioinformatic pipeline frameworks","volume":"18","author":"Leipzig","year":"2016","journal-title":"Brief Bioinform"},{"key":"2020051819281344200_ref244","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1093\/bioinformatics\/btt115","article-title":"Galaxy LIMS for next-generation sequencing","volume":"29","author":"Scholtalbers","year":"2013","journal-title":"Bioinformatics"},{"key":"2020051819281344200_ref245","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1016\/S0140-6736(10)60452-7","article-title":"Clinical assessment incorporating a personal genome","volume":"375","author":"Ashley","year":"2010","journal-title":"Lancet"},{"key":"2020051819281344200_ref246","doi-asserted-by":"crossref","first-page":"16957","DOI":"10.1073\/pnas.1315934110","article-title":"Personalized genomic disease risk of volunteers","volume":"110","author":"Gonzalez-Garay","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2020051819281344200_ref247","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-med-111212-144716","article-title":"Adult genetic risk screening","volume":"65","author":"Caskey","year":"2014","journal-title":"Annu Rev Med"},{"key":"2020051819281344200_ref248","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/nrg.2016.86","article-title":"Towards precision medicine","volume":"17","author":"Ashley","year":"2016","journal-title":"Nat Rev Genet"},{"key":"2020051819281344200_ref249","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.ajhg.2016.06.002","article-title":"Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine","volume":"99","author":"Green","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2020051819281344200_ref250","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/1755-0998.12286","article-title":"Pipeliner: software to evaluate the performance of bioinformatics pipelines for next-generation resequencing","volume":"15","author":"Nevado","year":"2015","journal-title":"Mol Ecol Resour"},{"key":"2020051819281344200_ref251","doi-asserted-by":"crossref","first-page":"211","DOI":"10.3325\/cmj.2012.53.211","article-title":"Personalized medicine--a tailored health care system: challenges and opportunities","volume":"53","author":"Louca","year":"2012","journal-title":"Croat Med J"},{"key":"2020051819281344200_ref252","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1634\/theoncologist.2013-0210","article-title":"Personalized medicine: hype or reality","volume":"18","author":"Chabner","year":"2013","journal-title":"Oncologist"},{"key":"2020051819281344200_ref253","first-page":"560","article-title":"Personalized medicine: part 1: evolution and development into theranostics","volume":"35","author":"Vogenberg","year":"2010","journal-title":"P T"},{"key":"2020051819281344200_ref254","first-page":"624","article-title":"Personalized medicine: part 2: ethical, legal, and regulatory issues","volume":"35","author":"Vogenberg","year":"2010","journal-title":"P T"},{"key":"2020051819281344200_ref255","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s40273-014-0211-5","article-title":"Concepts of 'personalization' in personalized medicine: implications for economic evaluation","volume":"33","author":"Rogowski","year":"2015","journal-title":"Pharmacoeconomics"},{"key":"2020051819281344200_ref256","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.15537\/smj.2016.12.16837","article-title":"Personalized medicine. Is it time for infectious diseases?","volume":"37","author":"Al-Mozaini","year":"2016","journal-title":"Saudi Med J"},{"key":"2020051819281344200_ref257","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s13167-011-0075-0","article-title":"Promoting predictive, preventive and personalized medicine in treatment of cardiovascular diseases","volume":"2","author":"Iso","year":"2011","journal-title":"EPMA J"},{"key":"2020051819281344200_ref258","doi-asserted-by":"crossref","first-page":"453","DOI":"10.2217\/pme.13.30","article-title":"Personalized medicine: challenges and opportunities for translational bioinformatics","volume":"10","author":"Overby","year":"2013","journal-title":"Per Med"},{"key":"2020051819281344200_ref259","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1097\/EDE.0000000000000667","article-title":"What does \"precision medicine\" have to say about prevention?","volume":"28","author":"Thomas","year":"2017","journal-title":"Epidemiology"},{"key":"2020051819281344200_ref260","doi-asserted-by":"crossref","first-page":"3","DOI":"10.3892\/br.2017.922","article-title":"Personalized medicine could transform healthcare","volume":"7","author":"Mathur","year":"2017","journal-title":"Biomed Rep"},{"issue":"Suppl 1","key":"2020051819281344200_ref261","doi-asserted-by":"crossref","first-page":"A69","DOI":"10.1186\/1878-5085-5-S1-A69","article-title":"Predictive, preventive and personalized medicine (PPPM) as a strategic avenue and global tool for advancing T1D-related care: fundamental, applied and affiliated issues","volume":"5","author":"Suchkov","year":"2014","journal-title":"EPMA J"},{"key":"2020051819281344200_ref262","doi-asserted-by":"crossref","first-page":"239","DOI":"10.4103\/0975-7406.160040","article-title":"Perspective: does personalized medicine hold the future for medicine","volume":"7","author":"Agyeman","year":"2015","journal-title":"J Pharm Bioallied Sci"},{"key":"2020051819281344200_ref263","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1878-5085-5-6","article-title":"Predictive, preventive and personalised medicine as the hardcore of 'Horizon 2020': EPMA position paper","volume":"5","author":"Golubnitschaja","year":"2014","journal-title":"EPMA J"},{"key":"2020051819281344200_ref264","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3325\/cmj.2012.53.294","article-title":"Roadmap to personalized medicine","volume":"53","author":"Qattan","year":"2012","journal-title":"Croat Med J"}],"container-title":["Briefings in Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/bib\/article-pdf\/21\/3\/885\/33227395\/bbz038.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/bib\/article-pdf\/21\/3\/885\/33227395\/bbz038.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T00:22:56Z","timestamp":1606695776000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bib\/article\/21\/3\/885\/5436939"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,11]]},"references-count":264,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,4,11]]},"published-print":{"date-parts":[[2020,5,21]]}},"URL":"https:\/\/doi.org\/10.1093\/bib\/bbz038","relation":{},"ISSN":["1467-5463","1477-4054"],"issn-type":[{"value":"1467-5463","type":"print"},{"value":"1477-4054","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,5]]},"published":{"date-parts":[[2019,4,11]]}}}