Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

…, GEN-COVID Multicenter Study (Italy)… - PLoS …, 2022 - journals.plos.org
… whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and
performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of …

[PDF][PDF] Influences of rare copy-number variation on human complex traits

MLA Hujoel, MA Sherman, AR Barton, RE Mukamel… - Cell, 2022 - cell.com
… our main analyses on CNVs called in 452,500 UK Biobank participants of European ancestry…
We also analyzed pilot whole genome sequencing (WGS) data available for 48 individuals (…

Identifying rare genetic determinants for improved polygenic risk prediction of bone mineral density and fracture risk

T Lu, V Forgetta, S Zhou, JB Richards… - Journal of Bone and …, 2023 - academic.oup.com
… expensive sequencing technologies (as opposed to $40 for genome‐wide … study, leveraging
the UK Biobank whole‐exome sequencing (WES) data collected from >450,000 participants

Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity

AM Deaton, A Dubey, LD Ward, P Dornbos… - Nature …, 2022 - nature.com
… We use exome sequences from 362,679 individuals to identify genes associated with waist-…
exome-sequencing data from the UK Biobank (UKB) 21 to perform gene-based analysis of …

Pathogenic variants and ascertainment: neuropsychiatric disease risk in a health system cohort

D Banerjee, S Girirajan - American Journal of Psychiatry, 2023 - Am Psychiatric Assoc
… , the authors analyzed exome sequencing data and found that … in the UK Biobank (7), or
participants in the Estonian Biobank … volunteers participating in cohorts such as the UK Biobank, …

Boosting the power of rare variant association studies by imputation using large-scale sequencing population

J Dai, Y Zhang, Z Li, H Li, S Du, D You, R Zhang… - medRxiv, 2023 - medrxiv.org
… For example, the UK Biobank 75 (UKB) has whole-exome sequencing (WES) data with a
large sample size (n ≈ 76 450,000) [15, 16], but most cancer cases have a sample size of less …

[HTML][HTML] A genome-wide spectrum of tandem repeat expansions in 338,963 humans

Y Cui, W Ye, JS Li, JJ Li, E Vilain, T Sallam, W Li - Cell, 2024 - cell.com
… derived from 338,963 whole-genome sequencing (WGS) … analysis revealed a much smaller
TRDS between samples of the same ancestry (European) from different cohorts (UK Biobank

Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer

EM Dicks, JP Tyrer, S Ezquina, M Jones, J Baierl… - medRxiv, 2024 - medrxiv.org
… whole exome sequencing to generate a large epithelial ovarian cancer case-control study in
order … The exome sequencing of the non-UK Biobank cases and controls was carried out in …

Estimating clinical risk in gene regions from population sequencing cohort data

JD Fife, CA Cassa - The American Journal of Human Genetics, 2023 - cell.com
… using over 200,000 exome sequences in the UK Biobank. We … UK Biobank and its participants
who provided biological samples and data for this analysis, performed under UK Biobank

Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer's disease/Dementia

DP Wightman, JE Savage, CA de Leeuw, IE Jansen… - medRxiv, 2021 - medrxiv.org
… ancestry in the UK biobank in order to perform exome-wide rare variant aggregation
analyses to identify genes … Exome sequencing was performed for 200,643 participants of the …