Article
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Nature genetics - 1 Oct 2024
Chundru V Kartik, Zhang Zhancheng, Walter Klaudia, Lindsay Sarah J, Danecek Petr, Eberhardt Ruth Y, Gardner Eugene J, Malawsky Daniel S, Wigdor Emilie M, Torene Rebecca, Retterer Kyle, Wright Caroline F, Ólafsdóttir Hildur, Guillen Sacoto Maria J, Ayaz Akif, Akbeyaz Ismail Hakki, Türkdoğan Dilşad, Al Balushi Aaisha Ibrahim, Bertoli-Avella Aida, Bauer Peter, Szenker-Ravi Emmanuelle, Reversade Bruno, McWalter Kirsty, Sheridan Eamonn, Firth Helen V, Hurles Matthew E, Samocha Kaitlin E, Ustach Vincent D, Martin Hilary C
Abstract excerpt
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 fraction of patients attributable to exome-wide autosomal recessive coding variants ranged from ~2-19% across genetically...
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