Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries. The estimated fract...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Chundru, VK, Zhang, Z, Walter, K, Lindsay, SJ, Danecek, P, Eberhardt, RY, Gardner, EJ, Malawsky, DS, Wigdor, EM, Torene, R, Retterer, K, Wright, CF, Ólafsdóttir, H, Guillen Sacoto, MJ, Ayaz, A, Akbeyaz, IH, Türkdoğan, D, Al Balushi, AI, Bertoli-Avella, A, Bauer, P, Szenker-Ravi, E, Reversade, B, McWalter, K, Sheridan, E
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	Nature Research 2024

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

Những quyển sách tương tự