[HTML][HTML] Exome sequencing and analysis of 454,787 UK Biobank participants

JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou… - Nature, 2021 - nature.com
… -coding gene in the genome. Here we used exome sequencing 1 to explore protein-altering
variants and their consequences in 454,787 participants in the UK Biobank study 2 . We …

Whole-genome sequencing of half-a-million UK Biobank participants

UK Biobank Whole-Genome Sequencing Consortium… - medRxiv, 2023 - medrxiv.org
… (WGS) provides a comprehensive view of the genome, … -genome sequencing of 490,640
UK Biobank participants, building on previous genotyping1 and whole-exome sequencing (WES…

[HTML][HTML] Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank

RJ Hofmeister, DM Ribeiro, S Rubinacci, O Delaneau - Nature Genetics, 2023 - nature.com
… method that quickly and accurately processes large sequencing datasets and applied it to
UK Biobank (UKB) whole-genome and whole-exome sequencing data. We demonstrate that …

[PDF][PDF] Analysis of rare variants in 470,000 exome-sequenced UK Biobank participants implicates novel genes affecting risk of hypertension

D Curtis - Pulse, 2023 - karger.com
… data for 200,000 UK Biobank participants identified two genes affecting risk of hypertension
Exome sequencing and analysis of 454,787 UK Biobank participants. Nature. 2021;599(…

Whole exome sequencing in the UK Biobank reveals risk gene SLC2A1 and biological insights for major depressive disorder

R Tian, T Ge, JZ Liu, M Lam, Biogen Biobank team… - MedRxiv, 2021 - medrxiv.org
… , we analyzed exome and health data from 454,787 participants of the UK Biobank (UKB). It
has … We also removed participants with self-reported substance abuse, psychotic condition or …

SLCO1B1 Exome Sequencing and Statin Treatment Response in 64,000 UK Biobank Patients

D Türkmen, J Bowden, JAH Masoli, D Melzer… - International Journal of …, 2024 - mdpi.com
… research was conducted using the UK Biobank resource, under application 14631. We thank
the UK Biobank participants and coordinators for the dataset. This study was supported by …

[HTML][HTML] Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

JE Ideozu, M Liu, BM Riley-Gillis, SR Paladugu… - Genome Medicine, 2024 - Springer
… We interrogated 454,787 whole exome sequences available in the UKBB to characterize
the diversity of CFTR variants across six ancestries [AFR, CSA, EAS, EUR, AMR, and MID] and …

[HTML][HTML] Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk

D Curtis - Journal of Human Genetics, 2024 - nature.com
analysis of rare coding variants observed in 200,000 exome-sequenced UK Biobank participants
… at exome-wide significance: LDLR, PCSK9, ANGPTL3 and IFITM5 [1]. The report of that …

[PDF][PDF] A spectrum of recessiveness among Mendelian disease variants in UK Biobank

AR Barton, MLA Hujoel, RE Mukamel… - The American Journal of …, 2022 - cell.com
… Our study did have several limitations. First, even with the large sample size provided by exome
sequencing in UK Biobank, we … Exome sequencing and analysis of 454,787 UK Biobank

[HTML][HTML] Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression

…, M Lam, JZ Liu, K Singh, Biogen Biobank Team… - Nature …, 2024 - nature.com
… The recently released whole-exome sequencing data in UKB … we analyzed exome sequencing,
survey, questionnaire, and electronic health record (EHR) data from 454,787 participants