Andrea Anderson

Researchers demonstrated that their method, called EDS-HAT, can pick up outbreaks in hospitals that would otherwise remain undetected.

The Children's Mercy Research Institute is using exome sequencing, genome sequencing, and other methods to diagnose and study rare pediatric conditions in underserved patients.

Researchers described the variant, disease, drug target, and drug safety insights being gained analyzing more than 150,000 UK Biobank whole-genome sequences.

Using sequence data for tens of thousands of psychotic disease cases and controls, researchers have begun unearthing specific phenotypes linked to rare variants.

Researchers are identifying stable and shifting gene expression and metabolite associations in blood samples collected from hundreds of female participants over nine years.

Research presented at ASHG suggested that germline cancer susceptibility profiling may help to predict survival outcomes for a subset of rhabdomyosarcoma cases.

The Genome-to-Treatment (GTRx) resource aims to provide front-line clinicians with information needed to manage and treat rare genetic conditions in infants and children.

At the ASHG virtual annual meeting, a 23andMe researcher presented rare variant associations found with genotypes and survey data from research consented customers.

Investigators got a look at metabolomic, gene expression, and regulatory features that shifted over time in response to Plasmodium falciparum infection.

At the ASHG annual meeting this week, a Newcastle University researcher described efforts to find de novo mutations behind oligozoospermia or azoospermia.