[HTML][HTML] Significant sparse polygenic risk scores across 813 traits in UK Biobank

Y Tanigawa, J Qian, G Venkataraman… - PLoS …, 2022 - journals.plos.org
… 269,000 individuals of white British ancestry in UK Biobank, we systematically characterize
… Our transferability assessment of PRS models in UK Biobank revealed that the sparse PRS …

Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer

RE Mukamel, RE Handsaker, MA Sherman, AR Barton… - medRxiv, 2022 - medrxiv.org
… To estimate haplotype-resolved VNTR allele lengths in UK Biobank participants, we applied
… VNTR+SNP haplotypes by analyzing short-read whole-genome sequencing (WGS) data …

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with …

G Hawkes, RN Beaumont, Z Li, R Mandla, X Li… - bioRxiv, 2023 - biorxiv.org
… We performed a multi-allele splitting procedure on each of the 60,648 pVCF whole genome
sequencing files provided by the UK Biobank using bcftools42 and then converted those …

[HTML][HTML] The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians

YJ Kim, S Moon, MY Hwang, S Han, HM Jang… - Nature …, 2022 - nature.com
UK Biobank that had become available in the interim. UK Biobank data from 337,475
European participants … and TC in our study and also replicated in UKB exome sequencing data, …

[HTML][HTML] Genetic associations of protein-coding variants in venous thromboembolism

XY He, BS Wu, L Yang, Y Guo, YT Deng, ZY Li… - Nature …, 2024 - nature.com
… leveraged data from 349,038 UK Biobank (UKB) participants 20,21 and performed the WES
exome sequencing data from 349,038 participants, we performed a WES analysis of VTE. …

Multi-ancestry Whole-exome Sequencing Study of Alcohol Use Disorder in Two Cohorts

L Wang, H Kranzler, J Gelernter, H Zhou - medRxiv, 2024 - medrxiv.org
… This research used data from the UK Biobank (project ID: 41910), a population-based
sample of participants whose contributions we gratefully acknowledge. The data access is …

Population scale whole genome sequencing provides novel insights into cardiometabolic health

Y Zhao, S Lockhart, J Liu, X Li, A Cortes, X Hua… - medRxiv, 2024 - medrxiv.org
… The whole genome sequencing (WGS) of UK Biobank participants is … UK Biobank
whole-exome sequencing processing 558 To quantify the gain from WGS vs WES in UK Biobank, we …

Polygenic architecture of rare coding variation across 400,000 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - medRxiv, 2022 - medrxiv.org
… We analyzed publicly available UK Biobank exome sequencing association statistics from
Genebass for 22 complex traits and up to 394,783 individuals of European ancestry, including …

[HTML][HTML] A loss-of-function CCR2 variant is associated with lower cardiovascular risk

MK Georgakis, R Malik, O El Bounkari, NR Hasbani… - medRxiv, 2023 - ncbi.nlm.nih.gov
… Among 428,191 unrelated (out of 454,775 with whole-exome sequencing data) UK
Biobank participants from the whole-exome sequencing data release, we found a total of 45 …

[HTML][HTML] The impact of rare protein coding genetic variation on adult cognitive function

…, H Ironfield, T Fang, Biogen Biobank Team… - Nature Genetics, 2023 - nature.com
analyzed exome sequencing and genome-wide genotyping data from 454,787 UK Biobank
(UKB) participants … We show that adult cognitive function is strongly influenced by the exome-…