{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T15:03:19Z","timestamp":1722697399107},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T00:00:00Z","timestamp":1444953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD078641"],"award-info":[{"award-number":["HD078641"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001348","name":"Agency for Science, Technology and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001348","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Despite its great potential, high\u2010throughput functional genomic data are rarely integrated and applied to characterizing the genomic basis of fertility. We obtained and reprocessed over 30 functional genomics datasets from human and mouse germ cells to perform genome\u2010wide prediction of genes underlying various reproductive phenotypes in both species. Genes involved in male fertility are easier to predict than their female analogs. Of the multiple genomic data types examined, protein\u2013protein interactions are by far the most informative for gene prediction, followed by gene expression, and then epigenetic marks. As an application of our predictions, we show that copy number variants (<jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s) disrupting predicted fertility genes are more strongly associated with gonadal dysfunction in male and female case\u2013control cohorts when compared to all gene\u2010disrupting <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a01.64, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a01.64\u00a0\u00d7\u00a010<jats:sup>\u22128<\/jats:sup> vs. <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a01.25, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a04\u00a0\u00d7\u00a010<jats:sup>\u22126<\/jats:sup>). Using gender\u2010specific fertility gene annotations further increased the observed associations (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a02.31, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a02.2\u00a0\u00d7\u00a010<jats:sup>\u221216<\/jats:sup>). We provide our gene predictions as a resource with this article.<\/jats:p>","DOI":"10.1111\/andr.12109","type":"journal-article","created":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T23:47:17Z","timestamp":1445039237000},"page":"1140-1149","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Improved detection of disease\u2010associated variation by sex\u2010specific characterization and prediction of genes required for fertility"],"prefix":"10.1111","volume":"3","author":[{"given":"N. R. Y.","family":"Ho","sequence":"first","affiliation":[{"name":"Departments of Genetics, and Pathology &amp; Immunology Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Huang","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and Pathology &amp; Immunology Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. F.","family":"Conrad","sequence":"additional","affiliation":[{"name":"Departments of Genetics, and Pathology &amp; Immunology Washington University School of Medicine St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-14-249"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.19.3.0334"},{"key":"e_1_2_9_4_1","volume-title":"National Public Health Action Plan for the Detection, Prevention, and Management of Infertility","author":"Centers for Disease Control and 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