ArticleAmerican journal of human genetics2013
Detecting and characterizing genomic signatures of positive selection in global populations.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans.PLoS genetics · 2018Pooled it
- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people.Human genetics · 2025Article
- The interplay of recombination landscape and a transposable element in European populations of Chironomus riparius.BMC genomics · 2025Article
- Polaris: Polarization of ancestral and derived polymorphic alleles for inferences of extended haplotype homozygosity in human populations.Bioinformatics (Oxford, England) · 2025Article
- Inferring past demography and genetic adaptation in Spain using the GCAT cohort.Scientific reports · 2025Article
- Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia.Scientific reports · 2025Article
- Digital Image Processing to Detect Adaptive Evolution.Molecular biology and evolution · 2024Article
- Computational Genomics and Its Applications to Anthropological Questions.American journal of biological anthropology · 2024Review
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- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- Analysis of Common SNPs across Continents Reveals Major Genomic Differences between Human Populations.Genes · 2022Article
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- Music Aptitude, Training, and Cognitive Transfer: A Mini-Review.Frontiers in psychology · 2022Review
- Selection signature analysis and genome-wide divergence of South African Merino breeds from their founders.Frontiers in genetics · 2022Article
- Using deep learning to identify recent positive selection in malaria parasite sequence data.Malaria journal · 2021Article
- Integration of multi-omics approaches for functional characterization of muscle related selective sweep genes in Nanchukmacdon.Scientific reports · 2021Article
- A Genomic Study of Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels.Animals : an open access journal from MDPI · 2020Article
- Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population.Molecular biology and evolution · 2020Article
- Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Natural selection is a significant force that shapes the architecture of the human genome and introduces diversity across global populations. The question of whether advantageous mutations have arisen in the human genome as a result of single or multiple mutation events remains unanswered except for the fact that there exist a handful of genes such as those that confer lactase persistence, affect skin pigmentation, or cause sickle cell anemia. We have developed a long-range-haplotype method for identifying genomic signatures of positive selection to complement existing methods, such as the integrated haplotype score (iHS) or cross-population extended haplotype homozygosity (XP-EHH), for locating signals across the entire allele frequency spectrum. Our method also locates the founder haplotypes that carry the advantageous variants and infers their corresponding population frequencies. This presents an opportunity to systematically interrogate the whole human genome whether a selection signal shared across different populations is the consequence of a single mutation process followed subsequently by gene flow between populations or of convergent evolution due to the occurrence of multiple independent mutation events either at the same variant or within the same gene. The application of our method to data from 14 populations across the world revealed that positive-selection events tend to cluster in populations of the same ancestry. Comparing the founder haplotypes for events that are present across different populations revealed that convergent evolution is a rare occurrence and that the majority of shared signals stem from the same evolutionary event.
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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.