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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Xehetasun bibliografikoak
Egile Nagusiak:	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
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	Nature Research 2024

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

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