Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.

doi:10.1016/j.ajhg.2021.03.012

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Article

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.

American journal of human genetics - 1 Apr 2021

Martin Alicia R, Atkinson Elizabeth G, Chapman Sinéad B, Stevenson Anne, Stroud Rocky E, Abebe Tamrat, Akena Dickens, Alemayehu Melkam, Ashaba Fred K, Atwoli Lukoye, Bowers Tera, Chibnik Lori B, Daly Mark J, DeSmet Timothy, Dodge Sheila, Fekadu Abebaw, Ferriera Steven, Gelaye Bizu, Gichuru Stella, Injera Wilfred E, James Roxanne, Kariuki Symon M, Kigen Gabriel, Koenen Karestan C, Kwobah Edith, Kyebuzibwa Joseph, Majara Lerato, Musinguzi Henry, Mwema Rehema M, Neale Benjamin M, Newman Carter P, Newton Charles R J C, Pickrell Joseph K, Ramesar Raj, Shiferaw Welelta, Stein Dan J, Teferra Solomon, van der Merwe Celia, Zingela Zukiswa

Abstract excerpt

Genetic studies in underrepresented populations identify disproportionate numbers of novel associations. However, most genetic studies use genotyping arrays and sequenced reference panels that best capture variation most common in European ancestry populations. To compare data generation strategies best suited for underrepresented populations, we sequenced the whole genomes of 91 individuals to high coverage as...

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Identifiers

PMID: 33770507
DOI: 10.1016/j.ajhg.2021.03.012
PMCID: PMC8059370

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