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Exome Copy Number Variant Detection, Analysis and Classification in a Large Cohort of Families with Undiagnosed Rare Genetic Disease

Gabrielle Lemire,Alba Sanchis-Juan,Kathryn Russell,Samantha Baxter,Katherine R. Chao,Moriel Singer-Berk,Emily Groopman,Isaac Wong,Eleina England,Julia Goodrich,Lynn Pais,Christina Austin-Tse,Stephanie DiTroia,Emily O'Heir,Vijay S. Ganesh,Monica H. Wojcik,Emily Evangelista,Hana Snow,Ikeoluwa Osei-Owusu,Jack Fu, Mugdha Singh,Yulia Mostovoy, Steve Huang,Kiran Garimella,Samantha L. Kirkham,Jennifer E. Neil,Diane D. Shao,Christopher A. Walsh,Emanuela Argilli, Carolyn Le,Elliott H. Sherr,Joseph G. Gleeson,Shirlee Shril,Ronen Schneider,Friedhelm Hildebrandt,Vijay G. Sankaran,Jill A. Madden,Casie A. Genetti,Alan H. Beggs,Pankaj B. Agrawal,Kinga M. Bujakowska,Emily Place,Eric A. Pierce,Sandra Donkervoort,Carsten G. Boennemann,Lyndon Gallacher,Zornitza Stark,Tiong Yang Tan,Susan M. White,Ana Toepf,Volker Straub,Mark D. Fleming,Martin R. Pollak,Katrin Ounap,Sander Pajusalu,Kirsten A. Donald,Zandre Bruwer,Gianina Ravenscroft,Nigel G. Laing,Daniel G. MacArthur,Heidi L. Rehm,Michael E. Talkowski,Harrison Brand,Anne O'Donnell-Luria

The American Journal of Human Genetics（2024）

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关键词
exome,copy number variant,CNV,GATK-gCNV,diagnostic yield,variant classification
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