ArticleProceedings of the National Academy of Sciences of the United States of America2009
Power of deep, all-exon resequencing for discovery of human trait genes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 2 of them syntheses that pooled it.
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Who cites it
113 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Meta-analysis of gene-level tests for rare variant association.Nature genetics · 2014Pooled it
- Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2011Pooled it
- Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.The pharmacogenomics journal · 2012Trial
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.American journal of human genetics · 2026Article
- Clinical validation of an integrated risk assessment test incorporating genomic and non-genomic data for sporadic breast cancer in Colombia.Frontiers in genetics · 2025Article
- Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Molecular characterization of vascular intestinal obstruction using whole-exome sequencing.Annals of translational medicine · 2022Article
- locStra: Fast analysis of regional/global stratification in whole-genome sequencing studies.Genetic epidemiology · 2021Article
- The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes.Current diabetes reports · 2019Review
- The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.BMC medical genomics · 2019Article
- A Cautionary Note on the Effects of Population Stratification Under an Extreme Phenotype Sampling Design.Frontiers in genetics · 2019Article
- Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome.Cell death & disease · 2018Article
- Pathway-induced allelic spectra of diseases in the presence of strong genetic effects.Human genetics · 2018Article
- Incorporating networks in a probabilistic graphical model to find drivers for complex human diseases.PLoS computational biology · 2017Article
- A rare-variant test for high-dimensional data.European journal of human genetics : EJHG · 2017Article
- Estimating the selective effects of heterozygous protein-truncating variants from human exome data.Nature genetics · 2017Article
- The impact of rare and low-frequency genetic variants in common disease.Genome biology · 2017Review
- From exomes to genomes: challenges and solutions in population-based genetic association studies.European journal of human genetics : EJHG · 2017Article
- Lumbosacral stenosis in Labrador retriever military working dogs - an exomic exploratory study.Canine genetics and epidemiology · 2017Article
53 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
The ability to sequence cost-effectively all of the coding regions of a given individual genome is rapidly approaching, with the potential for whole-genome resequencing not far behind. Initiatives are currently underway to phenotype hundreds of thousands of individuals for major human traits. Here, we determine the power for de novo discovery of genes related to human traits by resequencing all human exons in a clinical population. We analyze the potential of the gene discovery strategy that combines multiple rare variants from the same gene and treats genes, rather than individual alleles, as the units for the association test. By using computer simulations based on deep resequencing data for the European population, we show that genes meaningfully affecting a human trait can be identified in an unbiased fashion, although large sample sizes would be required to achieve substantial power.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.