ArticleNature genetics2010
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.
Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 195 papers, 3 of them syntheses that pooled it.
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Who cites it
195 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.PLoS genetics · 2013Pooled it
- Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia.Molecular psychiatry · 2012Pooled it
- Evidence of inbreeding depression on human height.PLoS genetics · 2012Pooled it
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- The impact of non-neutral synonymous mutations when inferring selection on nonsynonymous mutations.Genetics · 2025Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
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- DVA: predicting the functional impact of single nucleotide missense variants.BMC bioinformatics · 2024Article
- Evolutionary history of an Alpine Archaeognath (Ecology and evolution · 2023Article
- Quantifying the fraction of new mutations that are recessive lethal.Evolution; international journal of organic evolution · 2023Article
- Relationship between BCL2 mutations and follicular lymphoma outcome in the chemoimmunotherapy era.Blood cancer journal · 2023Article
- Viral intra-host evolutionary dynamics revealed via serial passage of Japanese encephalitis virusVirus evolution · 2023Article
- A tree-based gene-environment interaction analysis with rare features.Statistical analysis and data mining · 2022Article
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- Speciation of pelagic zooplankton: Invisible boundaries can drive isolation of oceanic ctenophores.Frontiers in genetics · 2022Article
- Challenges in quantifying genome erosion for conservation.Frontiers in genetics · 2022Review
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- Sex differences in deleterious mutational effects in Drosophila melanogaster: combining quantitative and population genetic insights.Genetics · 2021Article
135 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
38 authors.
Funding
Abstract
Targeted capture combined with massively parallel exome sequencing is a promising approach to identify genetic variants implicated in human traits. We report exome sequencing of 200 individuals from Denmark with targeted capture of 18,654 coding genes and sequence coverage of each individual exome at an average depth of 12-fold. On average, about 95% of the target regions were covered by at least one read. We identified 121,870 SNPs in the sample population, including 53,081 coding SNPs (cSNPs). Using a statistical method for SNP calling and an estimation of allelic frequencies based on our population data, we derived the allele frequency spectrum of cSNPs with a minor allele frequency greater than 0.02. We identified a 1.8-fold excess of deleterious, non-syonomyous cSNPs over synonymous cSNPs in the low-frequency range (minor allele frequencies between 2% and 5%). This excess was more pronounced for X-linked SNPs, suggesting that deleterious substitutions are primarily recessive.
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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.