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Showing 1–12 of 12 results
Advanced filters: Author: Sherry Li Zheng Clear advanced filters

  • 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

  • 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

  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073

  • Here they identify a short-lived vascular endothelial progenitor pool that predominantly vascularizes the mouse liver during postnatal growth and contributes to liver size control.

    • D. Berfin Azizoglu
    • Karina Perez
    • Roel Nusse
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16

  • This study uses chromatin tracing to identify alterations in single-cell 3D genome conformation during the progression of Kras-driven mouse lung adenocarcinoma and pancreatic ductal adenocarcinoma, and proposes Rnf2 as a regulator of the 3D genome.

    • Miao Liu
    • Shengyan Jin
    • Siyuan Wang
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 3075-3087

  • The extracellular matrix (ECM) is critical for animal development and intricately patterned at multiple scales. Here Adams and Pooranachithra et al. show how specific collagens are precisely localized to struts, highly patterned sub-micron structures in the nematode cuticle ECM.

    • Jennifer R. G. Adams
    • Murugesan Pooranachithra
    • Andrew D. Chisholm
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-19

  • 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

  • Mielke et al. perform a multi-assay analysis of humoral and adaptive cellular responses to SARS-CoV-2 in people with HIV compared to people without HIV. Using supervised machine learning tools and network analysis, the authors find differences in the immune profile and anti-endemic coronavirus immune response between these two populations.

    • Dieter Mielke
    • Shuying Sue Li
    • Guido Ferrari
    ResearchOpen Access
    Communications Medicine
    Volume: 5, P: 1-15