Exome Copy Number Variant (CNV) Detection, Analysis, and Curation from 6,678 Families with Undiagnosed Rare Genetic Disease
Gabrielle Lemire,Kathryn Russell,Samantha Baxter,Katherine Chao,Emily Evangelista,Moriel Singer-Berk,Alba Sanchis-Juan,Emily Groopman,Isaac Wong,Stephanie DiTroia,Eleina England,Julia Goodrich,Lynn Pais,Christina Austintse,Emily O'Heir,Hana Snow,Ikeoluwa A. Osei-Owusu,Jack Fu,Daniel MacArthur,Heidi Rehm,Michael Talkowski,Harrison Brand,Anne O'Donnell-Luria EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
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