{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T07:35:26Z","timestamp":1773819326531,"version":"3.50.1"},"reference-count":81,"publisher":"Institute of Electrical and Electronics Engineers (IEEE)","issue":"5","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/ieeexplore.ieee.org\/Xplorehelp\/downloads\/license-information\/IEEE.html"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IEEE J. Biomed. Health Inform."],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1109\/jbhi.2017.2778263","type":"journal-article","created":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T19:35:17Z","timestamp":1511984117000},"page":"1672-1683","source":"Crossref","is-referenced-by-count":14,"title":["Understanding the Bioinformatics Challenges of Integrating Genomics Into Healthcare"],"prefix":"10.1109","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3293-3721","authenticated-orcid":false,"given":"Ahmad","family":"Al Kawam","sequence":"first","affiliation":[]},{"given":"Arun","family":"Sen","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1213-3807","authenticated-orcid":false,"given":"Aniruddha","family":"Datta","sequence":"additional","affiliation":[]},{"given":"Nancy","family":"Dickey","sequence":"additional","affiliation":[]}],"member":"263","reference":[{"key":"ref73","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3003310"},{"key":"ref72","doi-asserted-by":"publisher","DOI":"10.1038\/clpt.2011.371"},{"key":"ref71","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1002823"},{"key":"ref70","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.131"},{"key":"ref76","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.204"},{"key":"ref77","doi-asserted-by":"crossref","first-page":"153?158","DOI":"10.1038\/nature05610","article-title":"Patterns of somatic mutation in human cancer\n genomes","volume":"446","author":"greenman","year":"2007","journal-title":"Nature"},{"key":"ref74","first-page":"51","article-title":"Genetic diagnostics of early childhood hearing loss: better testing with next-generation DNA\n sequencing","volume":"21","author":"sommen","year":"2012","journal-title":"B-ENT"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2013-14-4-r36"},{"key":"ref75","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3463"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"ref78","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-09-0913"},{"key":"ref79","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2013.01.002"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.101"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"980d","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among\n sequence variation and human phenotype","volume":"42","author":"landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"514d","DOI":"10.1093\/nar\/gki033","article-title":"Online mendelian inheritance in man (OMIM), a\n knowledgebase of human genes and genetic disorders","volume":"33","author":"hamosh","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1109\/TCBB.2016.2586070"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2006.07.001"},{"key":"ref60","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq330"},{"key":"ref62","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"ref61","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"ref63","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2003.10.001"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.000331"},{"key":"ref64","article-title":"Genoviz software development kit: Java tool kit for building genomics\n visualization applications","volume":"10","year":"2009","journal-title":"BMC Bioinformat"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/415530a","article-title":"Gene expression profiling predicts\n clinical outcome of breast cancer","volume":"415","author":"veer","year":"2002","journal-title":"Nature"},{"key":"ref65","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"ref66","doi-asserted-by":"publisher","DOI":"10.1038\/nm0102-68"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.1.278"},{"key":"ref67","first-page":"4","article-title":"Extraction of gene-disease relations from\n medline using domain dictionaries and machine learning","volume":"11","author":"chun","year":"0","journal-title":"Proc Pacific Symp Biocomput"},{"key":"ref68","doi-asserted-by":"publisher","DOI":"10.1016\/j.csbj.2014.11.005"},{"key":"ref69","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2999"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.128"},{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000076977.90682.A5"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/clpt.2013.72"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp290"},{"key":"ref21","first-page":"1?13","article-title":"The IGNITE network: A model for genomic\n medicine implementation and research","volume":"9","author":"weitzel","year":"2016","journal-title":"BMC Med Genomics"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.615"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-236"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0304146101"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji112"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/30.1.163"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"896d","DOI":"10.1093\/nar\/gkw1133","article-title":"The new NHGRI-EBI catalog of published\n genome-wide association studies (GWAS catalog)","volume":"45","author":"macarthur","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"164e","DOI":"10.1093\/nar\/gkq603","article-title":"Annovar: Functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"ref58","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"ref57","doi-asserted-by":"publisher","DOI":"10.1101\/gr.132159.111"},{"key":"ref56","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/30.1.38"},{"key":"ref55","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1048"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"61d","DOI":"10.1093\/nar\/gkl842","article-title":"NCBI\n reference sequences (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins","volume":"35","author":"pruitt","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"ref53","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2764"},{"key":"ref52","doi-asserted-by":"publisher","DOI":"10.1038\/ng1007-1181"},{"key":"ref10","first-page":"260?266","article-title":"Challenges to the translation of genomic\n information into clinical practice and health policy: Utilization, preferences, and economic value","volume":"10","author":"phillips","year":"2008","journal-title":"Current Opinion in Molecular Therapeutics"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2714"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1126\/science.1239119"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/nature09764"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2006.02.007"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.131"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2011.12.005"},{"key":"ref81","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)03167-6"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2014.05.014"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3390\/jpm3040306"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093\/jamia\/ocv065"},{"key":"ref80","doi-asserted-by":"publisher","DOI":"10.1038\/nature10760"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6947-9-17"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.78"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.2217\/14622416.7.2.237"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815699d0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1517\/14622416.5.5.571"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1001\/jama.299.11.1320"},{"key":"ref49","first-page":"94","article-title":"Clinical genomics, big data, and electronic medical records: Reconciling patient rights with\n research when privacy and science collide","volume":"4","author":"kulynych","year":"2017","journal-title":"J Law and the Biosciences"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2302"},{"key":"ref46","first-page":"35","article-title":"A practitioner's guide to data management and data\n integration in bioinformatics.","volume":"35","author":"eckman","year":"2004","journal-title":"Bioinformatics Managing Scientific Data 1st Edition"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.3390\/genes3030545"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-016-0371-3"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.13063\/2327-9214.1198"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"16s","DOI":"10.1038\/ng2028","article-title":"Methods and strategies for analyzing copy number variation using\n dna microarrays","volume":"39","author":"carter","year":"2007","journal-title":"Nature Genetics"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2484"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1186\/s12859-017-1747-0"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1101\/gr.197201","article-title":"High-throughput variation detection and\n genotyping using microarrays","volume":"11","author":"cutler","year":"2001","journal-title":"Genome Res"}],"container-title":["IEEE Journal of Biomedical and Health Informatics"],"original-title":[],"link":[{"URL":"http:\/\/xplorestaging.ieee.org\/ielx7\/6221020\/8432070\/08123845.pdf?arnumber=8123845","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T13:56:21Z","timestamp":1643205381000},"score":1,"resource":{"primary":{"URL":"https:\/\/ieeexplore.ieee.org\/document\/8123845\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":81,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1109\/jbhi.2017.2778263","relation":{},"ISSN":["2168-2194","2168-2208"],"issn-type":[{"value":"2168-2194","type":"print"},{"value":"2168-2208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9]]}}}