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Showing 1–12 of 12 results
Advanced filters: Author: Steven Buyske Clear advanced filters

  • Polygenic risk scores can help identify individuals at higher risk of type 2 diabetes. Here, the authors characterise a multi-ancestry score across nearly 900,000 people, showing that its predictive value depends on demographic and clinical context and extends to related traits and complications.

    • Boya Guo
    • Yanwei Cai
    • Burcu F. Darst
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16

  • Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

    • Andrew R Wood
    • Tonu Esko
    • Timothy M Frayling
    Research
    Nature Genetics
    Volume: 46, P: 1173-1186

  • A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.

    • Adam E. Locke
    • Bratati Kahali
    • Elizabeth K. Speliotes
    Research
    Nature
    Volume: 518, P: 197-206

  • Genome-wide association meta-analyses of waist-to-hip ratio adjusted for body mass index in more than 224,000 individuals identify 49 loci, 33 of which are new and many showing significant sexual dimorphism with a stronger effect in women; pathway analyses implicate adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution.

    • Dmitry Shungin
    • Thomas W. Winkler
    • Karen L Mohlke
    Research
    Nature
    Volume: 518, P: 187-196

  • Genetic analyses of ancestrally diverse populations show evidence of heterogeneity across ancestries and provide insights into clinical implications, highlighting the importance of including ancestrally diverse populations to maximize genetic discovery and reduce health disparities.

    • Genevieve L. Wojcik
    • Mariaelisa Graff
    • Christopher S. Carlson
    Research
    Nature
    Volume: 570, P: 514-518

  • Translational regulation of isoforms in the developing nervous system is not well understood. Here, the authors report translational de-repression of RNA binding protein isoforms at their 5′UTRs in the neocortex and show the neurodevelopmental risk of post-transcriptional dysregulation.

    • Tatiana Popovitchenko
    • Yongkyu Park
    • Mladen-Roko Rasin
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-21

  • Joanna Howson and colleagues perform a genome-wide association study and meta-analysis for coronary artery disease in large, trans-ancestry cohorts. They identify 15 new loci and correlate these regions with cell-type-specific gene expression and plasma protein levels to find novel pathways and potential mechanisms of disease.

    • Joanna M M Howson
    • Wei Zhao
    • Danish Saleheen
    Research
    Nature Genetics
    Volume: 49, P: 1113-1119

  • Publicly available sequencing data can be used as external common controls for rare variant analyses but cautious sample ascertainment and processing is needed to avoid bias and confounding. The authors review opportunities and challenges for the robust use of common controls in genetic studies, including study design, infrastructure and quality control considerations.

    • Genevieve L. Wojcik
    • Jessica Murphy
    • Audrey E. Hendricks
    Reviews
    Nature Reviews Genetics
    Volume: 23, P: 665-679