Uniparental disomy in a population of 32,067 clinical exome trios

PURPOSE: Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis. METHODS: We analyzed 32,067 ES trios referred for diagnostic testing...

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發表在:Genet Med
Main Authors: Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle
格式: Artigo
語言:Inglês
出版: Nature Publishing Group US 2021
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8187148/
https://ncbi.nlm.nih.gov/pubmed/33495530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01092-8
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