Article

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

2023-07-24

Abstract excerpt

Autosomal recessive (AR) coding variants are a well-known cause of rare disorders. We quantified the contribution of these variants to developmental disorders (DDs) in the largest and most ancestrally diverse sample to date, comprising 29,745 trios from the Deciphering Developmental Disorders (DDD) study and the genetic diagnostics company GeneDx, of whom 20.4% have genetically-inferred non-European ancestries. Th...

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Literature Corpus work: c6f2e260-a25d-5a16-a754-f984121540a8
DOI: 10.1101/2023.07.24.23293070

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