In PNAS this week: sequencing of Globular Amphora culture individuals, characterization of effects of variants of unknown significance in EGFR, and more.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
At the National Society of Genetic Counselors annual meeting, a number of clinicians said they conduct their own investigations of variants in clinical lab reports.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
The development is a positive for plaintiff Amy Williams, who has said she hopes her lawsuit will spur greater accountability and transparency among genetic testing labs.
Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.
In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.
