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.
Researchers report that even people with a high genetic risk of heart disease benefit from exercise, according to Time magazine.
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.
Lawmakers have asked four direct-to-consumer genetic testing companies to explain their privacy policies and security measures, according to Stat News.
The Trump Administration has proposed a plan to reorganize the federal government, the Washington Post reports.
In Science this week: genetic overlap among many psychiatric disorders, and more.
The Economist writes that an increasing number of scientific journals don't do peer review.