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Showing 1–6 of 6 results
Advanced filters: Author: Allan Motyer Clear advanced filters

  • The link between neuroinflammation and the progression of multiple sclerosis (MS) is unclear. Here, the authors show that in MS lesions, neuronal somatic mutations accumulate 2.5 times faster than in controls, equivalent to 1,291 excess mutations by age 70, suggesting that neuroinflammation can be mutagenic.

    • Allan Motyer
    • Stacey Jackson
    • Justin P. Rubio
    Research
    Nature Neuroscience
    Volume: 28, P: 757-765

  • Deep phenotype and genome-wide genetic data from 500,000 individuals from the UK Biobank, describing population structure and relatedness in the cohort, and imputation to increase the number of testable variants to 96 million.

    • Clare Bycroft
    • Colin Freeman
    • Jonathan Marchini
    ResearchOpen Access
    Nature
    Volume: 562, P: 203-209

  • A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

    • Kathie Y. Sun
    • Xiaodong Bai
    • Suganthi Balasubramanian
    ResearchOpen Access
    Nature
    Volume: 631, P: 583-592

  • Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disorder characterised by asthma, eosinophilia and vasculitis. Here, the authors describe a genome-wide association study of EGPA that reveals clinical and genetic differences between subgroups stratified by autoantibody status (ANCA).

    • Paul A Lyons
    • James E Peters
    • Kenneth G. C. Smith
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-13

  • Gil McVean and colleagues present a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics. Their method displays increased power to detect genetic effects over other approaches and identifies novel associations between classical HLA alleles and common immune-mediated diseases.

    • Adrian Cortes
    • Calliope A Dendrou
    • Gil McVean
    Research
    Nature Genetics
    Volume: 49, P: 1311-1318