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
Author
Taipei Veterans General HospitalORCID 0000-0002-8209-9627Unclaimed 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
Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang…·Pala Mauro
This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.
Margaret Sunitha Selvaraj, Xihao Li, Zilin Li…·Najib Ayas
The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.
Tetsushi Nakao, Alexander G. Bick, Margaret A. Taub…·Brian Custer
The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.
Cassandra Nichole Spracklen, Momoko Horikoshi, Young Jin Kim…·Kyong Soo Park
This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.
Vladimir B. Seplyarskiy, Ruslan Soldatov, Ryan J. McGinty…·Shamil R. Sunyaev
The paper decomposes mutation rate and spectra variation in human germline using blind source separation, identifying nine processes including those related to DNA damage and replication timing.