The program is in its third year monitoring individuals with these mutations to try to detect disease early, understand their risk, and develop preventive treatments.
With targeted sequence data on more than 500 cases of the lymphatic fluid accumulation condition, researchers found and explored lymphedema-related ANGPT2 mutations.
By employing distributed computational resources and a novel algorithm, the VariantSpark technology is able to process a trillion data points in 15 hours.
Using genome-wide association study, cell line, organoid, and other data, researchers tracked down polygenic contributors to drug-induced liver injury in hepatocytes.
A spontaneous coronary condition that is overrepresented in young women had a polygenic risk score linked to lower-than-usual atherosclerosis-related heart disease risk.
Two new papers have identified thousands of genetic loci with ties to more than two-dozen blood cell traits in individuals from up to five ancestry groups.
Accounting for polygenic background in conditions like hereditary breast cancer or Lynch syndrome can increase the accuracy of disease risk estimation.
The sequence-based analysis suggests oncogene-containing circular, extrachromosomal sequences occur in most cancer types and may correspond with poorer patient outcomes.
Exome sequencing and case-control analyses on hundreds of stillborn cases led to more than a dozen apparent risk genes and additional loss-of-function intolerant genes.
