{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:00:10Z","timestamp":1753891210542,"version":"3.41.2"},"reference-count":39,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T00:00:00Z","timestamp":1565222400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2019.00670","type":"journal-article","created":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T09:35:03Z","timestamp":1565256903000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study"],"prefix":"10.3389","volume":"10","author":[{"given":"Peng","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaofei","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiqi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinghong","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,8,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"B2","doi-asserted-by":"publisher","first-page":"3646","DOI":"10.1242\/dev.148304","article-title":"The three-dimensional genome: regulating gene expression during pluripotency and development","volume":"144","author":"Andrey","year":"2017","journal-title":"Development"},{"key":"B3","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1038\/ng0504-431","article-title":"The genetic association database","volume":"36","author":"Becker","year":"2004","journal-title":"Nat. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1145\/362686.362692","article-title":"Space\/time trade-offs in hash coding with allowable errors","volume":"13","author":"Bloom","year":"1970","journal-title":"Commun. ACM"},{"key":"B5","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1016\/j.ydbio.2010.08.033","article-title":"Deletion of Akt1 causes heart defects and abnormal cardiomyocyte proliferation","volume":"347","author":"Chang","year":"2010","journal-title":"Dev. Biol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"B7","unstructured":"NHLBI GO Exome Sequencing Project (ESP)Seattle, WA2019"},{"key":"B8","doi-asserted-by":"publisher","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"B9","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/nprot.2008.211","article-title":"Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources","volume":"4","author":"Huang","year":"2009","journal-title":"Nat. Protoc."},{"key":"B10","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1038\/nature09298","article-title":"Integrating common and rare genetic variation in diverse human populations","volume":"467","year":"2010","journal-title":"Nature"},{"key":"B11","article-title":"kmcEx: memory-frugal and retrieval-efficient encoding of counted k-mers","volume-title":"Bioinformatics","author":"Jiang","year":"2019"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat. Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"4219","DOI":"10.1073\/pnas.1615970114","article-title":"Trio-based exome sequencing arrests de novo mutations in early-onset high myopia","volume":"114","author":"Jin","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14680","article-title":"T cell costimulation blockade blunts pressure overload-induced heart failure","volume":"8","author":"Kallikourdis","year":"2017","journal-title":"Nat. Commun."},{"key":"B15","doi-asserted-by":"publisher","first-page":"D590","DOI":"10.1093\/nar\/gky962","article-title":"New approach for understanding genome variations in KEGG","volume":"47","author":"Kanehisa","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"B16","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B18","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B19","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s40169-017-0171-4","article-title":"Deletion of Cdc42 in embryonic cardiomyocytes results in right ventricle hypoplasia","volume":"6","author":"Liu","year":"2017","journal-title":"Clin. Transl. Med."},{"key":"B20","doi-asserted-by":"publisher","first-page":"D896","DOI":"10.1093\/nar\/gkw1133","article-title":"The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)","volume":"45","author":"MacArthur","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"B21","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1186\/s13059-017-1348-2","article-title":"The multidimensional mechanisms of long noncoding RNA function","volume":"18","author":"Marchese","year":"2017","journal-title":"Genome Biol."},{"key":"B22","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1038\/nature21039","article-title":"Rare and low-frequency coding variants alter human adult height","volume":"542","author":"Marouli","year":"2017","journal-title":"Nature"},{"key":"B23","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1038\/nmeth.1226","article-title":"Mapping and quantifying mammalian transcriptomes by RNA-Seq","volume":"5","author":"Mortazavi","year":"2008","journal-title":"Nat. Methods"},{"key":"B24","doi-asserted-by":"publisher","first-page":"21181","DOI":"10.1074\/jbc.270.36.21181","article-title":"Both extracellular immunoglobin-like domains of CD80 contain residues critical for binding T cell surface receptors CTLA-4 and CD28","volume":"270","author":"Peach","year":"1995","journal-title":"J. Biol. Chem."},{"key":"B25","doi-asserted-by":"publisher","first-page":"1840","DOI":"10.1016\/j.febslet.2013.04.027","article-title":"Communication of genome regulatory elements in a folded chromosome","volume":"587","author":"Razin","year":"2013","journal-title":"FEBS Lett."},{"key":"B26","first-page":"66","article-title":"Post-infarction ventricular septal defect: risk factors and early outcomes","volume":"56","author":"Serpytis","year":"2015","journal-title":"Hellenic J. Cardiol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0144-2","article-title":"Ventricular septal defect","volume":"9","author":"Spicer","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"B29","doi-asserted-by":"publisher","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":"B30","doi-asserted-by":"publisher","first-page":"D362","DOI":"10.1093\/nar\/gkw937","article-title":"The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible","volume":"45","author":"Szklarczyk","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"B31","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"B32","doi-asserted-by":"publisher","first-page":"D331","DOI":"10.1093\/nar\/gkw1108","article-title":"Expansion of the gene ontology knowledgebase and resources","volume":"45","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"B33","doi-asserted-by":"publisher","first-page":"D135","DOI":"10.1093\/nar\/gky1031","article-title":"LNCipedia 5: towards a reference set of human long non-coding RNAs","volume":"47","author":"Volders","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"B34","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from next-generation sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1375","DOI":"10.1093\/bioinformatics\/btu839","article-title":"A bayesian framework for de novo mutation calling in parents-offspring trios","volume":"31","author":"Wei","year":"2015","journal-title":"Bioinformatics"},{"key":"B36","doi-asserted-by":"publisher","first-page":"1173","DOI":"10.1038\/ng.3097","article-title":"Defining the role of common variation in the genomic and biological architecture of adult human height","volume":"46","author":"Wood","year":"2014","journal-title":"Nat. Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"3844","DOI":"10.1093\/bioinformatics\/btx089","article-title":"Mapreduce for accurate error correction of next-generation sequencing data","volume":"33","author":"Zhao","year":"2017","journal-title":"Bioinformatics"},{"key":"B38","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1186\/s12864-018-5272-y","article-title":"Mining statistically-solid k-mers for accurate NGS error correction","volume":"19","author":"Zhao","year":"2018","journal-title":"BMC Genomics"},{"key":"B39","doi-asserted-by":"publisher","first-page":"D203","DOI":"10.1093\/nar\/gkv1252","article-title":"NONCODE 2016: an informative and valuable data source of long non-coding RNAs","volume":"44","author":"Zhao","year":"2016","journal-title":"Nucleic Acids Res."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00670\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T22:07:53Z","timestamp":1569362873000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00670\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,8]]},"references-count":39,"alternative-id":["10.3389\/fgene.2019.00670"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2019.00670","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2019,8,8]]},"article-number":"670"}}