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Showing 1–12 of 12 results
Advanced filters: Author: R. Nicole Howie Clear advanced filters

  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477

  • Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

    • Jie Huang
    • Bryan Howie
    • Nicole Soranzo
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9

  • Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

    • Klaudia Walter
    • Josine L. Min
    • Weihua Zhang
    ResearchOpen Access
    Nature
    Volume: 526, P: 82-90

  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103

  • Cooperation can be stabilized against exploitation if cooperators can reliably recognize each other. Here, Gruenheit and colleagues show that different alleles of the Tgr locus of the social amoebaDictyostelium discoideumunderlie the ability of different strains to recognize and cooperate with socially compatible individuals.

    • Nicole Gruenheit
    • Katie Parkinson
    • Christopher R. L. Thompson
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-9

  • Population-based genome sequencing provides an increasingly rich resource for the identification of low-frequency, large effect variants associated with clinically important phenotypes. Timpson et al. use UK10K data to identify a variant of the APOC3gene strongly associated with plasma triglyceride levels.

    • Nicholas J. Timpson
    • Klaudia Walter
    • Hou-Feng Zheng
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-11

  • Levels of circulating thyrotropin and free thyroxine reflect thyroid function, however, their genetic underpinnings remain poorly understood. Taylor et al. take advantage of whole-genome sequence data from cohorts within the UK10K project to identify novel variants associated with these traits.

    • Peter N. Taylor
    • Eleonora Porcu
    • Pingbo Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-11

  • Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine common or low-frequency variants associated with these traits.

    • Simon Haworth
    • Chin Yang Shapland
    • Beate St Pourcain
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16