Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height
Gareth Hawkes, Robin N. Beaumont, Zilin Li…·Michael N. Weedon
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Johns Hopkins UniversityORCID 0000-0002-1530-6884Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
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Gareth Hawkes, Robin N. Beaumont, Zilin Li…·Michael N. Weedon
Kenneth E. Westerman, Maura E. Walker, Sheila M. Gaynor…·Alisa Knodle Manning
The paper identifies a gene-diet interaction modifying the association between macronutrient intake and glycemic traits, highlighting challenges in detecting such interactions due to measurement error and sample size.
Zilin Li, Xihao Li, Hufeng Zhou…·Deborah Brown
The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.
DANIEL A. DICORPO, Sheila M. Gaynor, Emily M. Russell…·Alisa Knodle Manning
The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.
Pierrick Wainschtein, Deepti Jain, Zhili Zheng…·Joshua C. Bis
The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.
Jennifer Wessel, Timothy D. Majarian, Heather M. Highland…·José C. Florez
The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.