ASHG

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.

Genes in immune-related pathways were among those flagged when researchers used RNA sequencing on blood samples to look at functional genetic features in the population.

Data presented at the ASHG virtual meeting highlighted the population insights that can be gleaned from IDB profiles in populations, including loci linked to blood traits.

During a session at the ASHG 2020 virtual meeting, representatives from both organizations laid out the reasons for their contrasting guidelines.

Antibacterial and psychiatric drugs could counteract gene expression patterns seen in COVID-19, according to data presented at the virtual ASHG conference.

At the ASHG conference, a researcher described efforts to sequence SARS-CoV-2 genomes from Oregon to investigate introductions, super-spreader events, and viral biology.

Using data for more than 10,200 individuals with autism spectrum disorder and their family members, researchers delineated rare, inherited alterations and de novo changes.

The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.