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Narasimhan, V, Hunt, KA, Mason, D, Baker, CL, Karczewski, KJ, Barnes, MR, Barnett, AH, Bates, C, Bellary, S, Bockett, NA, et al.
Health and population effects of rare gene knockouts in adult humans with related parents.
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Aguet, F, Brown, AA, Castel, SE, Davis, JR, Mohammadi, P, Segrè, AV, Zappala, Z, Abell, NS, Frésard, L, Gamazon, ER, et al.
Local genetic effects on gene expression across 44 human tissues.
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Whiffin, N, Minikel, E, Walsh, R, O’Donnell-Luria, A, Karczewski, K, Ing, AY, Barton, PJR, Funke, B, Cook, SA, MacArthur, DG, et al.
Using high-resolution variant frequencies to empower clinical genome interpretation.
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Kaplanis, J, Gordon, A, Wahl, M, Gershovits, M, Markus, B, Sheikh, M, Gymrek, M, Bhatia, G, MacArthur, DG, Price, AL, et al.
Quantitative analysis of population-scale family trees using millions of relatives.
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
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