ArticleNature genetics2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Genotypic and phenotypic consequences of domestication in dogs.G3 (Bethesda, Md.) · 2026Article
- Article
- Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.Molecular genetics and genomics : MGG · 2025Article
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Genotypic and phenotypic consequences of domestication in dogs.bioRxiv : the preprint server for biology · 2025Article
- Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.Nature human behaviour · 2025Article
- Review
- Phenotypic spectrum of dual diagnoses in developmental disorders.American journal of human genetics · 2024Article
- Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.Nature genetics · 2024Article
- IκBα controls dormancy in hematopoietic stem cells via retinoic acid during embryonic development.Nature communications · 2024Article
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Authors and funding
29 authors.
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Abstract
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 inferred ancestry groups and was significantly correlated with average autozygosity. Established autosomal recessive developmental disorder-associated (ARDD) genes explained 84.0% of the total autosomal recessive coding burden, and 34.4% of the burden in these established genes was explained by variants not already reported as pathogenic in ClinVar. Statistical analyses identified two novel ARDD genes: KBTBD2 and ZDHHC16. This study expands our understanding of the genetic architecture of developmental disorders across diverse genetically inferred ancestry groups and suggests that improving strategies for interpreting missense variants in known ARDD genes may help diagnose more patients than discovering the remaining genes.
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