Variant interpretation using population databases: Lessons from gnomAD

Gudmundsson, S; Singer-Berk, M; Watts, NA; Phu, W; Goodrich, JK; Solomonson, M; Rehm, HL; MacArthur, DG; O'Donnell-Luria, A

O'Donnell-Luria, A (通讯作者)，Broad Inst MIT & Harvard, 415 Main St, Cambridge, MA 02142 USA.

HUMAN MUTATION, 2022; 43 (8): 1012

Abstract

Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants am......

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