Article
Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations.
BMC genomics - 1 Nov 2021
Emde Anne-Katrin, Phipps-Green Amanda, Cadzow Murray, Gallagher C Scott, Major Tanya J, Merriman Marilyn E, Topless Ruth K, Takei Riku, Dalbeth Nicola, Murphy Rinki, Stamp Lisa K, de Zoysa Janak, Wilcox Philip L, Fox Keolu, Wasik Kaja A, Merriman Tony R, Castel Stephane E
Abstract excerpt
BACKGROUND: Historically, geneticists have relied on genotyping arrays and imputation to study human genetic variation. However, an underrepresentation of diverse populations has resulted in arrays that poorly capture global genetic variation, and a lack of reference panels. This has contributed to deepening global health disparities. Whole genome sequencing (WGS) better captures genetic variation but remains...
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