ArticleNature biotechnology2016
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Article in Nature biotechnology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 193 papers, 4 of them syntheses that pooled it.
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Who cites it
193 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Prediction of success in sports based on assumed individual genetic predisposition: lack of association with the C > T variant in the ACTN3 gene.Journal of physiological anthropology · 2025Pooled it
- Meta-analysis of dispensable essential genes and their interactions with bypass suppressors.Life science alliance · 2024Pooled it
- Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors.Annals of neurology · 2022Pooled it
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- The power of many: when genetics met yeasts and high-throughput.Biological reviews of the Cambridge Philosophical Society · 2026Review
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- Beyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms.Genetics · 2026Article
- Unbiased Discovery of Genetic Determinants of Resilience to CAD: Insights From PROMISE and CATHGEN.JACC. Advances · 2026Article
- Expanding TheCellMap.org to visualize a genome-scale genetic interaction network for a human cell line.bioRxiv : the preprint server for biology · 2026Article
- Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.European journal of human genetics : EJHG · 2026Observational
- Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation.Science (New York, N.Y.) · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Genetic resilience to chronic obstructive pulmonary disease is a clinically distinct subtype in individuals with cigarette smoke exposure.Respiratory research · 2025Article
- Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.Journal of neurology · 2025Article
- Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes.The Journal of clinical investigation · 2025Article
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- Low-frequency genetic variants in GAK enhance Golgi function and protect against Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- A global genetic interaction map of a human cell reveals conserved principles of genetic networks.bioRxiv : the preprint server for biology · 2025Article
133 more citing papers are in PubMed but not listed here.
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30 authors.
Funding
Abstract
Genetic studies of human disease have traditionally focused on the detection of disease-causing mutations in afflicted individuals. Here we describe a complementary approach that seeks to identify healthy individuals resilient to highly penetrant forms of genetic childhood disorders. A comprehensive screen of 874 genes in 589,306 genomes led to the identification of 13 adults harboring mutations for 8 severe Mendelian conditions, with no reported clinical manifestation of the indicated disease. Our findings demonstrate the promise of broadening genetic studies to systematically search for well individuals who are buffering the effects of rare, highly penetrant, deleterious mutations. They also indicate that incomplete penetrance for Mendelian diseases is likely more common than previously believed. The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies.
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