Sequence-level analysis of European Huntington's disease haplotype indicates its long history and suggests potential targets for allele-specific gene-targeting therapies.
Researchers considered the management impact of multigene panel results for more than 1,000 BRCA1/2 mutation-free women referred for hereditary breast and ovarian cancer testing.
Targeted and exome sequencing uncovered loss-of-function mutations in DCHS1 in several families affected by non-syndromic mitral valve prolapse.
A study involving more than 4,000 Huntington's disease cases led to variants on chromosomes 15 and 8 with ties to the age at which symptoms appear.
Independent research teams used exome or genome sequencing to compare mutation patterns in matched Barrett's esophagus, esophageal cancer, and normal samples.
Broad's CRSP pipeline repurposes and validates familiar tools and best practices from its research arm and also incorporates some new ones.
Data for tens of thousands of individuals pointed to SNPs mediating the decline in colorectal cancer risk in individuals who regularly take aspirin or related drugs.
The methods could help lead to a tool to predict off-target activity and design highly specific guide RNAs for use in clinical applications of CRISPR/Cas9.
The collaborators will explore how InterSystems' HealthShare health informatics platform can support genomic and clinical data integration and analysis
With exome sequencing data on nearly 10,000 individuals with or without early-onset myocardial infarction, researchers narrowed in on two genes prone to rare mutations in those at enhanced heart attack risk.
The Economist reports that it is increasingly easier to analyze the metabolites people give off, potentially revealing personal information about them.
A controversial paper on the gender gap in science has been corrected, according to BuzzFeed News.
The Los Angeles Times reports that only a third of California students meet the state's new science standards.
In Science this week: evidence of interbreeding between the ancestors of West Africans and an unknown archaic human, and more.