heart disease

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

In a family with unusually low LDL cholesterol levels, researchers in China found a variant in the LIMA1 gene through exome sequencing.

Researchers searched exome sequences of more than 100,000 individuals for associations to more than a dozen quantitative human traits and 10 diseases.

Rainbow will offer Color's hereditary cancer and heart health genetic risk assessment tests to patients in Hong Kong.

Three microRNA that were significantly upregulated in plaques may serve as targets to affect cardiovascular disease development, according to a new study.

In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.

With the help of electronic health record data, researchers searched for common variants linked to hundreds of diseases or clinical lab measurements.

Cases with genome and family history reports and controls with family history reports alone had comparable healthcare costs during the six months after receiving their reports.

Analyzing samples from Iceland and elsewhere, researchers uncovered one known and two new risk loci for aortic valve stenosis that are also associated with other heart risk pathways.