The collection of more than 125,000 exomes and 15,000 genomes has enabled an analysis of loss-of-function variants, may help diagnose rare disease, and guide drug development.
British bioinformatics firm PrecisionLife has mined the UK Biobank to identify genetic risk factors for late-stage COVID-19 patients developing sepsis.
A GWAS that incorporated magnetic resonance imaging data for UK Biobank participants led to 45 previously undetected risk loci related to dilated cardiomyopathy.
With UK Biobank and FinnGenn data, researchers tracked down rare changes in the angiopoietin-like 7 gene that coincide with lower glaucoma and intraocular pressure risk.
GenomeWeb asked a number of prominent researchers in the field via email about their top picks for notable developments or achievements in genomics during the 2010s.
Using data for more than half a million individuals, researchers identified 449 refractive area-related loci, including 336 sites not linked to the eye condition in the past.
An analysis of biobank data from Japan, the UK, and Finland found the link between obesity and lifespan was stronger among individuals with European ancestry.
In Nucleic Acids Research this week: algorithm to determine molecular sequence types and other microbial features, computational method to uncover R-loop structures, and more.
