ArticleGenome biology2014
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
Article in Genome biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
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Who cites it
42 citing papers in PubMed, 88 citations in OpenAlex.
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- Power of inclusion: Enhancing polygenic prediction with admixed individuals.American journal of human genetics · 2023Article
- Uncovering Footprints of Natural Selection Through Spectral Analysis of Genomic Summary Statistics.Molecular biology and evolution · 2023Article
- Analysis of Common SNPs across Continents Reveals Major Genomic Differences between Human Populations.Genes · 2022Article
- Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome.Genome biology · 2022Article
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- Creating artificial human genomes using generative neural networks.PLoS genetics · 2021Article
- Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders.BMC medical genetics · 2020Article
- Disruptive natural selection by male reproductive potential prevents underexpression of protein-coding genes on the human Y chromosome as a self-domestication syndrome.BMC genetics · 2020Article
- Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans.European journal of human genetics : EJHG · 2020Article
- Positive selection in Europeans and East-Asians at the ABCA12 gene.Scientific reports · 2019Article
- Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing.Human genome variation · 2019Article
- Natural Selection Equally Supports the Human Tendencies in Subordination and Domination: A Genome-Wide Study WithFrontiers in genetics · 2019Article
- Transposable Elements Contribute to the Adaptation of Arabidopsis thaliana.Genome biology and evolution · 2018Article
- FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.Genome biology · 2018Article
- A genomic perspective on HLA evolution.Immunogenetics · 2018Review
- Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.Nature communications · 2017Article
- Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats.Journal of molecular biology · 2017Article
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 4 countries.
Funding
Abstract
backgroundPopulation differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have previously investigated the pattern of genetic differentiation among human populations at 36.8 million genomic variants to identify sites in the genome showing high frequency differences. Here, we extend this dataset to include additional variants, survey sites with low levels of differentiation, and evaluate the extent to which highly differentiated sites are likely to result from selective or other processes.
resultsWe demonstrate that while sites with low differentiation represent sampling effects rather than balancing selection, sites showing extremely high population differentiation are enriched for positive selection events and that one half may be the result of classic selective sweeps. Among these, we rediscover known examples, where we actually identify the established functional SNP, and discover novel examples including the genes ABCA12, CALD1 and ZNF804, which we speculate may be linked to adaptations in skin, calcium metabolism and defense, respectively.
conclusionsWe identify known and many novel candidate regions for geographically restricted positive selection, and suggest several directions for further research.
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Registered trials
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.