{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:34:50Z","timestamp":1772138090510,"version":"3.50.1"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2018,8,2]],"date-time":"2018-08-02T00:00:00Z","timestamp":1533168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03 DE-02579"],"award-info":[{"award-number":["R03 DE-02579"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01-DE016148"],"award-info":[{"award-number":["R01-DE016148"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R37-DE008559"],"award-info":[{"award-number":["R37-DE008559"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["U01 HG-005925"],"award-info":[{"award-number":["U01 HG-005925"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>De novo copy number deletions have been implicated in many diseases, but there is no formal method to date that identifies de novo deletions in parent-offspring trios from capture-based sequencing platforms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We developed Minimum Distance for Targeted Sequencing (MDTS) to fill this void. MDTS has similar sensitivity (recall), but a much lower false positive rate compared to less specific CNV callers, resulting in a much higher positive predictive value (precision). MDTS also exhibited much better scalability.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>MDTS is freely available as open source software from the Bioconductor repository.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Supplementary information<\/jats:title>\n                    <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/bty677","type":"journal-article","created":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T15:13:58Z","timestamp":1533136438000},"page":"571-578","source":"Crossref","is-referenced-by-count":2,"title":["Detection of de novo copy number deletions from targeted sequencing of trios"],"prefix":"10.1093","volume":"35","author":[{"given":"Jack M","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA"}]},{"given":"Elizabeth J","family":"Leslie","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, GA, USA"}]},{"given":"Alan F","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA"}]},{"given":"Jeffrey C","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA"}]},{"given":"Mary L","family":"Marazita","sequence":"additional","affiliation":[{"name":"Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA"}]},{"given":"Terri H","family":"Beaty","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA"}]},{"given":"Robert B","family":"Scharpf","sequence":"additional","affiliation":[{"name":"Department of Oncology, Johns Hopkins School of Medicine, Baltimore, MD, USA"}]},{"given":"Ingo","family":"Ruczinski","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA"}]}],"member":"286","published-online":{"date-parts":[[2018,8,2]]},"reference":[{"key":"2023051510585153000_bty677-B1","doi-asserted-by":"crossref","first-page":"241.","DOI":"10.1186\/s13059-016-1110-1","article-title":"New insights into the generation and role of de novo mutations in health and disease","volume":"17","author":"Acuna-Hidalgo","year":"2016","journal-title":"Genome Biol"},{"key":"2023051510585153000_bty677-B2","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nrg2958","article-title":"Genome structural variation discovery and genotyping","volume":"12","author":"Alkan","year":"2011","journal-title":"Nat. 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