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Showing 1–11 of 11 results
Advanced filters: Author: Alon Keinan Clear advanced filters

  • Alon Keinan and colleagues estimate the ratio of genetic diversity on the X chromosome to that on the autosome (X/A) on the basis of whole-genome sequencing of 69 females from the 1000 Genomes Project. They find that across populations, the X/A ratio increases with genetic distance from genes. They further find that this ratio is reduced in Europeans compared to West Africans, which may be explained by demographic history.

    • Srikanth Gottipati
    • Leonardo Arbiza
    • Alon Keinan
    Research
    Nature Genetics
    Volume: 43, P: 741-743

  • Fatty acid desaturase genes encode enzymes for the biosynthesis of fatty acids that are essential for individuals with plant-based diets. Here, the authors show positive selection on alternative alleles in Europeans before and after the onset of farming and strongest selection in Southern European farmers.

    • Kaixiong Ye
    • Feng Gao
    • Alon Keinan
    Research
    Nature Ecology & Evolution
    Volume: 1, P: 1-11

  • David Reich and colleagues report evidence for accelerated genetic drift on the X chromosome, on the basis of population genetic analyses comparing patterns of genetic variation on the X chromosome and the autosomes in West African, North European and East Asian datasets.

    • Alon Keinan
    • James C Mullikin
    • David Reich
    Research
    Nature Genetics
    Volume: 41, P: 66-70

  • Here, the analysis of 'HapMap 3' is reported — a public data set of genomic variants in human populations. The resource integrates common and rare single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) from 11 global populations, providing insights into population-specific differences among variants. It also demonstrates the feasibility of imputing newly discovered rare SNPs and CNPs.

    • David M. Altshuler
    • Richard A. Gibbs
    • Jean E. McEwen
    Research
    Nature
    Volume: 467, P: 52-58

  • This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

    • Gil A. McVean
    • David M. Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 491, P: 56-65

  • Low frequency coding single-nucleotide variants (SNVs) are predicted to disproportionately affect protein function. Here, the authors evaluate 2,009 missense SNVs across 2,185 protein-protein interactions using yeast two-hybrid and protein complementation assays and find that disruptive SNVs often occur in disease-associated genes.

    • Robert Fragoza
    • Jishnu Das
    • Haiyuan Yu
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-15

  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74

  • 1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

    • Olivier Delaneau
    • Jonathan Marchini
    • Leena Peltonenz
    Research
    Nature Communications
    Volume: 5, P: 1-9

  • Adam Siepel and colleagues find that natural selection has exerted a significant influence on transcription factor binding sites in the human lineage using a new probabilistic method, INSIGHT. They analyzed whole-genome sequences from 54 individuals, as well as from several non-human primates, combined with chromatin immunoprecipitation and sequencing data sets to identify transcription factor binding sites and evidence of selection.

    • Leonardo Arbiza
    • Ilan Gronau
    • Adam Siepel
    Research
    Nature Genetics
    Volume: 45, P: 723-729