Two new studies of people with autism spectrum disorder indicate that mosaic mutations and copy number variants contribute to a person's risk for the condition.
The Helix Laboratory Platform is the first whole-exome sequencing platform to receive do novo authorization by the agency and paves the way for others.
A multi-ancestry genome-wide association study meta-analysis uncovered 86 genetic loci associated with prostate cancer risk that researchers bundled into a genetic risk score.
Researchers uncovered genetic loci that may influence why childhood cancer survivors of African ancestry are more likely to develop therapy-linked cardiomyopathy.
Exome array-wide association and rare variant-focused genome-wide association meta-analyses led to 87 rare variants with ties to one or more blood pressure traits.
Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype.
