Here we used exome sequencingto explore protein altering variants and their consequences in 454,787 UK Biobank study participants. We identified 12 million coding variants, including ~1 million loss-of-function
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB) whole-genome and whole-exome sequencing data. We...
Exome sequencing and analysis of 454,787 UK Biobank participants. Nature. 2021;599:628–34. Article CAS PubMed PubMed Central Google Scholar Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, Wang H, et al. Systematic localization of common disease-associated variation in regulatory ...
An even larger genome-wide association meta-analysis study of human handedness has also been performed, including the UK Biobank in addition to many other datasets, for a total of 194,198 left-handed and 1,534,836 right-handed individuals21. The greater statistical power of this study resulted...
Fig. 1: Design of the study. The analysis utilised cerebellum-related traits and whole exome sequencing data. A whole exome genome-wide association analysis was conducted, including single-variant association tests and gene-based aggregation tests. The workflow incorporated BHR, sex-specific and con...
Exome sequencing and analysis of 454,787 UK Biobank participants. Nature. 2021;599:628–34. 10. Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, Wang H, et al. Systematic localization of common disease-associated variation in regu‑ latory DNA. Science. 2012;337:1190–5. 11...
The mutational spectrum of asthma and allergy associated genes is not known although recent biobank based exome sequencing studies included these traits. We therefore conducted a secondary analysis of exome data from 281,104 UK Biobank samples for association of mostly rare variants with asthma, alle...
(Table1). Control sequencing data were sourced wholly from the UK Interval study; a set of healthy UK blood donors (https://www.intervalstudy.org.uk/). All analyses restricted case histotypes to high-grade serous, low-grade serous, clear-cell, endometrioid, mixed, and other rare histo...
Even so, the large size and high redundancy of the wheat genome is still a chal- lenge. Several methods facilitate the use of high-throughput sequence analysis for mapping in the complex wheat genome by enriching relevant regions. Genotyping-by-sequencing (GBS) entails restriction enzyme digestion...
In contrast, exome sequencing allows the determination of a genetic diagnosis for all types of inherited eye disorders in one single test and when a new panel is implemented, a bioinformatics re-analysis of the already available data is sufficient. The aim of this study was to determine ...