{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T07:40:29Z","timestamp":1778139629045,"version":"3.51.4"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"21","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: Only a few large systematic studies have evaluated the impact of copy number variants (CNVs) on common diseases. Several million individuals have been genotyped on single nucleotide variation arrays, which could be used for genome-wide CNVs association studies. However, CNV calls remain prone to false positives and only empirical filtering strategies exist in the literature. To overcome this issue, we defined a new quality score (QS) estimating the probability of a CNV called by PennCNV to be confirmed by other software.<\/jats:p>\n               <jats:p>Results: Out-of-sample comparison showed that the correlation between the consensus CNV status and the QS is twice as high as it is for any previously proposed CNV filters. ROC curves displayed an AUC higher than 0.8 and simulations showed an increase up to 20% in statistical power when using QS in comparison to other filtering strategies. Superior performance was confirmed also for alternative consensus CNV definition and through improving known CNV-trait associations.<\/jats:p>\n               <jats:p>Availability and Implementation: \u00a0http:\/\/goo.gl\/T6yuFM<\/jats:p>\n               <jats:p>Contact: \u00a0zoltan.kutalik@unil.ch or aurelien@mace@unil.ch<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btw477","type":"journal-article","created":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T07:21:31Z","timestamp":1468308091000},"page":"3298-3305","source":"Crossref","is-referenced-by-count":46,"title":["New quality measure for SNP array based CNV detection"],"prefix":"10.1093","volume":"32","author":[{"given":"A.","family":"Mac\u00e9","sequence":"first","affiliation":[{"name":"1 Institute of Social and Preventive Medicine, University Hospital of Lausanne, Lausanne, Switzerland"},{"name":"2 Department of Computational Biology, University of Lausanne, Lausanne, Switzerland"},{"name":"3 Swiss Institute of Bioinformatics, Lausanne, Switzerland,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Tuke","sequence":"additional","affiliation":[{"name":"4 Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.S.","family":"Beckmann","sequence":"additional","affiliation":[{"name":"3 Swiss Institute of Bioinformatics, Lausanne, Switzerland,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Lin","sequence":"additional","affiliation":[{"name":"5 Division of Cardiology, Geneva University Hospital, Geneva, Switzerland,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Jacquemont","sequence":"additional","affiliation":[{"name":"6 Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre Universitaire Hospitalier Vaudois, Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.N.","family":"Weedon","sequence":"additional","affiliation":[{"name":"4 Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Reymond","sequence":"additional","affiliation":[{"name":"7 Center for Integrative Genomics, University for Lausanne, Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Kutalik","sequence":"additional","affiliation":[{"name":"1 Institute of Social and Preventive Medicine, University Hospital of Lausanne, Lausanne, Switzerland"},{"name":"3 Swiss Institute of Bioinformatics, Lausanne, Switzerland,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2016,7,10]]},"reference":[{"key":"2023020113515668900_btw477-B1","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1101\/gr.114876.110","article-title":"CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing","volume":"21","author":"Abyzov","year":"2011","journal-title":"Genome Res"},{"key":"2023020113515668900_btw477-B2","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/humu.20074","article-title":"Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers","volume":"24","author":"Brasch-Andersen","year":"2004","journal-title":"Hum. 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