{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:10:56Z","timestamp":1779336656834,"version":"3.51.4"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:00:00Z","timestamp":1777939200000},"content-version":"vor","delay-in-days":4,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["R01MH111658"],"award-info":[{"award-number":["R01MH111658"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["R01MH129725"],"award-info":[{"award-number":["R01MH129725"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["R01MH128813"],"award-info":[{"award-number":["R01MH128813"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["R01MH129724"],"award-info":[{"award-number":["R01MH129724"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["U01MH111661"],"award-info":[{"award-number":["U01MH111661"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012695","name":"Beatrice and Samuel A. Seaver Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012695","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Korea government","award":["RS-2025-24912980"],"award-info":[{"award-number":["RS-2025-24912980"]}]},{"name":"Global-LAMP Program of the National Research Foundation of Korea"},{"DOI":"10.13039\/100009122","name":"Ministry of Education","doi-asserted-by":"publisher","award":["RS-2023-00301976"],"award-info":[{"award-number":["RS-2023-00301976"]}],"id":[{"id":"10.13039\/100009122","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002551","name":"Seoul National University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002551","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Gene-damaging mutations are highly informative for studies seeking to discover genes underlying developmental disorders. Traditionally, these de novo variants are recognized by evaluating high-quality DNA sequence from affected offspring and parents. However, when parental sequence is unavailable, methods are required to infer de novo status and use this inference for association studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We use data from autism spectrum disorder to illustrate and evaluate methods. Separating de novo from rare inherited variants is challenging because the latter are far more common. Using a classifier for unbalanced data and variants of known inheritance class, we build an inheritance model and then a de novo score for variants when parental data are missing. Next, we propose a new Random Draw (RD) model to use this score for gene discovery. Built into an existing inferential framework, RD produces a more powerful gene-based association test and controls the false discovery rate.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Codes are available at Github (https:\/\/github.com\/HaeunM\/TADA-RD) and Zenodo (DOI: https:\/\/doi.org\/10.5281\/zenodo.18531769).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btag177","type":"journal-article","created":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:40:49Z","timestamp":1777376449000},"source":"Crossref","is-referenced-by-count":1,"title":["A framework to infer\n                    <i>de novo<\/i>\n                    exonic variants when parental genotypes are missing enhances association studies of autism"],"prefix":"10.1093","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-4792-9069","authenticated-orcid":false,"given":"Haeun","family":"Moon","sequence":"first","affiliation":[{"name":"Seoul National University Department of Statistics, , Seoul, 08826,","place":["South Korea"]},{"name":"Seoul National University School of Transdisciplinary Innovations, , Seoul, 08826,","place":["South Korea"]},{"name":"Seoul National University Institute for Data Innovation in Science, , Seoul, 08826,","place":["South Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Sloofman","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai Seaver Autism Center for Research and Treatment, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Psychiatry, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Friedman Brain Institute, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Neuroscience, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai The Mindich Child Health and Development Institute, , New York, NY 10029,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina Natividad","family":"Avila","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai Seaver Autism Center for Research and Treatment, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Psychiatry, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Friedman Brain Institute, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Neuroscience, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai The Mindich Child Health and Development Institute, , New York, NY 10029,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lambertus","family":"Klei","sequence":"additional","affiliation":[{"name":"University of Pittsburgh Department of Psychiatry, , Pittsburgh, PA 15260,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernie","family":"Devlin","sequence":"additional","affiliation":[{"name":"University of Pittsburgh Department of Psychiatry, , Pittsburgh, PA 15260,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph D","family":"Buxbaum","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai Seaver Autism Center for Research and Treatment, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Psychiatry, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Friedman Brain Institute, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai Department of Neuroscience, , New York, NY 10029,","place":["United States"]},{"name":"Icahn School of Medicine at Mount Sinai The Mindich Child Health and Development Institute, , New York, NY 10029,","place":["United 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