exome sequencing
ACMG Adds Three New Genes to Secondary Findings List
The American College of Medical Genetics and Genomics has added three new cardiovascular genes to the latest release of its secondary finding list.
ESHG: New Variant Analyses by Broad Institute Enhance Rare Disease Diagnostics
Analyzing data from the Broad's Center for Mendelian Genomics, researchers showed the diagnostic utility of exome CNVs and mitochondrial DNA variants.
BabySeq Project Unearths Actionable Genetic Variants Impacting Infants, Parents
Researchers saw monogenic disease-related mutations in almost 11 percent of infants' genomes, prompting further testing and management, including for family members.
Large Study of Early-Onset Colorectal Cancer Patients IDs Unique, Potentially Actionable Mutations
In younger patients, HER2 mutations were more prevalent in those who had MSI-high/TMB-high tumors, while POLE mutations were more common in MSS/TMB-high tumors, researchers reported at ASCO.
Cognitive Functions Linked to Rare Coding Variants in Sequencing Study
Researchers used exome sequencing data for hundreds of thousands of individuals to identify rare coding variants and genes associated with three cognitive functional traits.