News on molecular diagnostics, pharmacogenomics tests for coronary artery disease, congenital heart defects, and more.
With a three-pronged approach, a team led by Mount Sinai researchers examined the functional effects of noncoding de novo mutations on cardiac development.
The findings underscore the value of carrying out large-scale human genetic analyses as part of drug target identification and validation efforts.
The GWAS of more than 200,000 Japanese individuals across 42 diseases identified 25 novel loci shared between Japanese and European populations.
A GWAS that incorporated magnetic resonance imaging data for UK Biobank participants led to 45 previously undetected risk loci related to dilated cardiomyopathy.
Researchers investigated how well four polygenic risk scores for coronary heart disease performed in three racial or ethnic groups in the US.
