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Showing 1–16 of 16 results
Advanced filters: Author: Andrew Sudmant Clear advanced filters

  • An analysis involving the shotgun sequencing of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary.

    • Morten E. Allentoft
    • Martin Sikora
    • Eske Willerslev
    ResearchOpen Access
    Nature
    Volume: 625, P: 301-311

  • Analyses of imputed ancient genomes and of samples from the UK Biobank indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.

    • Evan K. Irving-Pease
    • Alba Refoyo-Martínez
    • Eske Willerslev
    ResearchOpen Access
    Nature
    Volume: 625, P: 312-320

  • 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

  • Reference assemblies of great ape sex chromosomes show that Y chromosomes are more variable in size and sequence than X chromosomes and provide a resource for studies on human evolution and conservation genetics of non-human apes.

    • Kateryna D. Makova
    • Brandon D. Pickett
    • Adam M. Phillippy
    ResearchOpen Access
    Nature
    Volume: 630, P: 401-411

  • The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified.

    • Peter H. Sudmant
    • Tobias Rausch
    • Jan O. Korbel
    ResearchOpen Access
    Nature
    Volume: 526, P: 75-81

  • Sequencing a human genome using next-generation methods does not distinguish between the two copies of each chromosome. Kitzman et al. determine a haplotype-resolved genome sequence by efficiently constructing and sequencing long-insert clones that cover the diploid genome with a low likelihood of overlap.

    • Jacob O Kitzman
    • Alexandra P MacKenzie
    • Jay Shendure
    Research
    Nature Biotechnology
    Volume: 29, P: 59-63

  • 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

  • Evan Eichler and colleagues present a detailed characterization of the chromosome 15q13.3 microdeletion region. They identify complex structural polymorphisms and find that the rearrangement breakpoints cluster in palindromic GOLGA8 core duplicons, providing evidence that this repeat and its palindromic architecture underlie the evolutionary and disease-related instability of this region.

    • Francesca Antonacci
    • Megan Y Dennis
    • Evan E Eichler
    Research
    Nature Genetics
    Volume: 46, P: 1293-1302

  • 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

  • Mario Falchi, Philippe Froguel and colleagues report association of a multi-allelic copy number variant encompassing the salivary amylase gene AMY1 with body mass index and risk of obesity.

    • Mario Falchi
    • Julia Sarah El-Sayed Moustafa
    • Philippe Froguel
    Research
    Nature Genetics
    Volume: 46, P: 492-497