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...
Váldodahkkit: | , , , , , , , , , , , , , , , , , , , , , , , |
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Materiálatiipa: | Journal article |
Giella: | English |
Almmustuhtton: |
Nature Research
2024
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