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

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...

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Opis bibliograficzny
Główni autorzy: 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
Format: Journal article
Język:English
Wydane: Nature Research 2024

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