Applying Machine Learning on UK Biobank biomarker data empowers case-control discovery yield

M Garg, M Karpinski, D Matelska, L Middleton… - medRxiv, 2023 - medrxiv.org
… to any biobank-level dataset that includes biomarker data, we apply it here to the UK Biobank
(… , and of European ancestry exome sequencing samples with linked health record data. …

Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies

TB Cavazos, L Kachuri, RE Graff, JL Nierenberg… - BMC medicine, 2022 - Springer
… Circos plot describing the pairs of first and second cancer diagnoses with at least 25
cases present in Kaiser Permanente Research Bank and the UK Biobank study populations …

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

A Nag, RS Dhindsa, J Mitchell, C Vasavda… - Science …, 2022 - science.org
… We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to … exome
sequencing association study for diabetes in 412,394 multiancestry exomes from the UK Biobank (…

[HTML][HTML] Polygenic risk affects the penetrance of monogenic kidney disease

A Khan, N Shang, JG Nestor, C Weng, G Hripcsak… - medRxiv, 2023 - ncbi.nlm.nih.gov
analysis of exome/genome sequencing, SNP microarray, and electronic health record (EHR)
data for a total of 568,457 participants from the UK Biobank and the All of Us study. …

Analysis of rare Parkinson's disease variants in millions of people

V Pitz, MB Makarious, S Bandres-Ciga, H Iwaki… - npj Parkinson's …, 2024 - nature.com
UK Biobank datasets were derived from whole exomes (UKB) and the exome regions of
whole genome sequencing … To generate the association files for AMP-PD and UK Biobank, we …

Rare coding variants in CHRNB2 reduce the likelihood of smoking

VM Rajagopal, K Watanabe, J Mbatchou, A Ayer… - Nature Genetics, 2023 - nature.com
… a large-scale exome-wide association study (ExWAS) of … in the human genome, captured
via exome sequencing, with … mainly derived from UK Biobank (UKB) 27 participants’ responses …

Performing highly parallelized and reproducible GWAS analysis on biobank-scale data

S Schönherr, JF Schachtl-Riess… - NAR Genomics and …, 2024 - academic.oup.com
… whole exome sequencing (WES) and whole genome sequencing … in 375 278 UK Biobank
participants of European ancestry (… Pan-UK Biobank summary statistics in 399 003 UK Biobank

Large-scale rare variant burden testing in Parkinson's disease identifies novel associations with genes involved in neuro-inflammation

…, J Hardy, UK Brain Expression Consortium (UKBEC)… - medRxiv, 2022 - medrxiv.org
study is that we focus on using whole genome (WGS) and whole exome sequencing (WES)
to facilitate the analysis of … For the UK Biobank analyses, only neurologically healthy controls …

Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and Shetland

SM Kerr, L Klaric, MD Muckian, E Cowan, L Snadden… - medRxiv, 2024 - medrxiv.org
… agreement with gnomAD, 458,838 whole genome sequences from the UK Biobank (26) …
We have access to exome sequence data from 200,000 individuals from UK Biobank, six of …

Whole-exome sequencing study identifies novel rare variants and genes associated with intraocular pressure and glaucoma

XR Gao, M Chiariglione, AJ Arch - medRxiv, 2022 - medrxiv.org
exome sequencing data from 454,756 participants in the UK Biobank (UKB), we conducted
the largest exome-… We would like to thank the study participants from the UK Biobank as well …