News on molecular diagnostics, pharmacogenomics tests for coronary artery disease, congenital heart defects, and more.
With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.
Yale School of Medicine researchers analyzed patients and families affected by early-onset coronary artery disease to uncover mutations in CELA2A.
Some of the loci suggest potential treatment options with drugs that modulate LDL cholesterol, the LPL pathway, or circulating lipoprotein(a), the researchers said.
Geisinger and UPenn researchers found that Titin truncations revealed by exome sequencing increased DCM risk in those with European but not with African ancestry.
Researchers tracked down monogenic risk variants, carriers, disease culprits, and more for 50 individuals with cardiomyopathy and 50 unaffected participants.
