Close Menu

variants of unknown significance

Stanford University's Allison Kurian and her colleagues found that women with pathogenic variants were more likely to undergo a bilateral mastectomy.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

This Week in PNAS

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.

Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.

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.

Been Reclassified

The New York Times reports on the shifting interpretations of what some genetic variants mean over time.

Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.

Pages

Three genetic testing companies form a coalition to influence how Congress considers genetic privacy, The Hill reports.

University of California, San Diego researchers investigate how skin care products influence the skin microbiome, Scientific American reports.

The Wall Street Journal examines billing codes used by uBiome.

In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.