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UK Biobank

More than 198,000 LOF variants turned up in exome sequences from 49,960 UK Biobank participants, including variants with potential ties to human traits.

The University of Groningen-led team further uncovered variants associated with risk of dilated cardiomyopathy. 

Two new papers have identified thousands of genetic loci with ties to more than two-dozen blood cell traits in individuals from up to five ancestry groups.

UK Biobank hopes cloud-based analytics tools will streamline WGS analysis and open the database to researchers who don't otherwise have access to bioinformatics infrastructure.

The findings underscore the value of carrying out large-scale human genetic analyses as part of drug target identification and validation efforts. 

 

 

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.

The study aims to enroll 20,000 existing Biobank participants, as well as their adult children and grandchildren, from England, Scotland, and Wales.

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.

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The UK and the European Union have come to a sticking point in the negotiation of how the UK might remain involved in the Horizon Europe research program, the Guardian reports.

The New York Times reports that experts pushed during a meeting of an FDA advisory board for the agency to require more safety data from SARS-CoV-2 vaccine trials.

The Washington Post reports Moderna expects that it will have enough data on its candidate SARS-CoV-2 vaccine to submit to regulatory authorities by mid-November.

In Science this week: ANXA11 variants affect calcium homeostasis and stress granule disassembly in ALS, and more.