ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
GWAS signals revisited using human knockouts.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed.
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Clan genomics: From OMIM phenotypic traits to genes and biology.American journal of medical genetics. Part A · 2021Article
- ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.American journal of human genetics · 2021Article
- RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.Brain : a journal of neurology · 2020Article
- Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.American journal of human genetics · 2019Article
- Clinical genetics and genomic medicine in Qatar.Molecular genetics & genomic medicine · 2018Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeGenome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common challenge in GWAS is the interpretation of signals, which are usually attributed to the genes closest to the polymorphic markers that display the strongest statistical association. Naturally occurring complete loss of function (knockout) of these genes in humans can inform GWAS interpretation by unmasking their deficiency state in a clinical context.MethodsWe exploited the unique population structure of Saudi Arabia to identify novel knockout events in genes previously highlighted in GWAS using combined autozygome/exome analysis.ResultsWe report five families with homozygous truncating mutations in genes that had only been linked to human disease through GWAS. The phenotypes observed in the natural knockouts for these genes (TRAF3IP2, FRMD3, RSRC1, BTBD9, and PXDNL) range from consistent with, to unrelated to, the previously reported GWAS phenotype.ConclusionWe expand the role of human knockouts in the medical annotation of the human genome, and show their potential value in informing the interpretation of GWAS of complex traits.
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