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Showing 1–10 of 10 results
Advanced filters: Author: Robin J. Hofmeister Clear advanced filters

  • Noncoding rare variant analyses using whole-genome sequencing data from the UK Biobank identify gene–trait associations for 42 blood cell traits but find that most signals are driven by linkage disequilibrium between common and rare variants.

    • Diogo M. Ribeiro
    • Robin J. Hofmeister
    • Olivier Delaneau
    Research
    Nature Genetics
    Volume: 57, P: 2146-2155

  • Comparison of association signals in UK Biobank using different strategies for assessing genetic variation shows that whole-exome sequencing combined with array genotyping and imputation offers similar performance to whole-genome sequencing at a reduced cost.

    • Sheila M. Gaynor
    • Tyler Joseph
    • Timothy A. Thornton
    ResearchOpen Access
    Nature Genetics
    Volume: 56, P: 2345-2351

  • Studies on parent-of-origin effects have been limited in terms of sample size due to lack of parental genomes or known genealogies. Here, the authors develop a method to infer the parent-of-origin of an individual alleles in biobank-scale datasets, without requiring parental genomes or prior knowledge of genealogy, allowing discovery of parent-of-origin effects with an unprecedented sample size.

    • Robin J. Hofmeister
    • Simone Rubinacci
    • Olivier Delaneau
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15

  • SHAPEIT5, a phasing method that accurately processes large sequencing datasets, was applied on the UK Biobank whole-genome and whole-exome sequencing data to generate reference panels of haplotypes that boost imputation accuracy and enable the detection of compound heterozygous loss-of-function events for 549 genes.

    • Robin J. Hofmeister
    • Diogo M. Ribeiro
    • Olivier Delaneau
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 1243-1249

  • Local gene co-expression is found throughout the genome, but systematic analysis of these co-expressed genes is needed. Here, the authors identify local co-expressed genes in 49 tissues and characterize the genetic variants which may affect their expression and contribute to disease.

    • Diogo M. Ribeiro
    • Simone Rubinacci
    • Olivier Delaneau
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-13

  • Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for research and towards personalized medicine.

    • Lili Milani
    • Maris Alver
    • Andres Metspalu
    ReviewsOpen Access
    Nature Communications
    Volume: 16, P: 1-13