O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function

Autor: Rehm, Heidi 1, Goodrich, Julia 1, Chao, Katherine 2, Laricchia, Kristen 2, Wilson, Michael 2, Fu, Jack 1, Tiao, Grace 2, He, Qin 2, Marten, Daniel 2, Poterba, Timothy 1, Vittal, Christopher 2, Chen, Siwei 1, Lu, Wenhan 2, Baxter, Samantha 2, Chapman, Sinéad 1, Cusick, Caroline 2, Darnowsky, Philip 2, Gauthier, Laura 2, Gruenschloss, Leonhard 3, Grant, Riley 2, Jahl, Stephen 2, Solomonson, Matthew 2, Stevens, Christine 2, MacArthur, Daniel 3, Talkowski, Michael 1, Neale, Benjamin 1, O'Donnell-Luria, Anne 4, Samocha, Kaitlin 1, Karczewski, Konrad 1, Daly, Mark 1
Zdroj: In Genetics in Medicine Open 2024 2 Supplement 1
Databáze: ScienceDirect