Queen Mary University of London
Repeat Expansion Prevalence in Populations Higher Than Assumed, Study Finds
Researchers used genome sequence data for nearly 82,000 individuals to explore RED-related allele frequencies and features across populations.
Population Testing for BRCA1/2 Appears Cost-Effective in Younger Canadian Women
Using simulated data for 1 million women, researchers found that population-based BRCA1/2 testing would be cost-effective, particularly in 30-year-old women.
Genotype-Centered Screen Points to Unexpected Prevalence of Heart Condition-Related Mutations
Hereditary cardiac transthyretin amyloidosis-related mutations appeared in 0.1 percent of UK Biobank participants, with higher prevalence in African ancestry participants.
Ribosomal DNA Copy Number Levels Linked to Kidney Function, Inflammation in UK Biobank
Researchers dug into whole-genome sequence data for UK Biobank participants, finding ties between ribosomal DNA copy number and traits such as kidney function.
Candidate Genes for Condition Limiting Blood Flow to Extremities Identified by GWAS
Researchers tracked down three risk loci and two candidate risk genes for Raynaud's phenomenon with a genome-wide association study using UK Biobank data.