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Showing 1–7 of 7 results
Advanced filters: Author: Paula Rotter Clear advanced filters

  • Here the authors develop a novel statistical method for quantifying mutation burden from whole genome sequencing data and use it to discover the genetic, genomic, and phenotypic correlates of clonal hematopoiesis without known driver genetic lesions.

    • Joshua S. Weinstock
    • Sharjeel A. Chaudhry
    • Marios Arvanitis
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-15

  • The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

    • Pradeep Natarajan
    • Akhil Pampana
    • Gina M. Peloso
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14

  • Ageing increases the risk of many diseases. Here the authors compare blood cell transcriptomes of over 14,000 individuals and identify a set of about 1,500 genes that are differently expressed with age, shedding light on transcriptional programs linked to the ageing process and age-associated diseases.

    • Marjolein J. Peters
    • Roby Joehanes
    • Andrew D. Johnson
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-14

  • Statins are effectively used to prevent and manage cardiovascular disease, but patient response to these drugs is highly variable. Here, the authors identify two new genes associated with the response of LDL cholesterol to statins and advance our understanding of the genetic basis of drug response.

    • Iris Postmus
    • Stella Trompet
    • Chris C. A. Spencer
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-10

  • Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

    • Céline Bellenguez
    • Fahri Küçükali
    • Jean-Charles Lambert
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 412-436