At AACC, Researcher Discusses Variants of Unknown Significance Found Through NGS Panel Test | GenomeWeb

ATLANTA (GenomeWeb) – When researchers from Progenetica-Hermes Pardini Institute in Brazil screened a dozen patients using a next-generation sequencing-based gene panel test they developed, they uncovered a number of variants of unknown significance (VUS), one of the investigators said at the American Association for Clinical Chemistry annual meeting here yesterday.

Giovana Torrezan and her Progenetica colleagues screened a dozen women lacking BRCA1 or BRCA2 mutations for other breast cancer-linked mutations to find that eight of them harbored VUS.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

The White House has created a list of cuts, including to the NIH, that could be in a budget bill for this year.

The US National Institutes of Health is to allow applicants to cite preprints just as they would any other research paper, ScienceInsider reports.

Two manuscript pages handwritten by Charles Darwin are going on the auction block, according to the Los Angeles Times.

In PNAS this week: tool to track transcriptome-wide binding, evidence of balancing selection on behavior-linked genes, and more.

Sponsored by

Our roundtable of industry experts will provide an overview of the current regulatory landscape for clinical genomics tests.

Sponsored by

In this webinar, Gregory J. Tsongalis of Dartmouth Hitchcock Medical Center will discuss how his lab developed and validated a cancer hotspot assay. 

Sponsored by
Twist BioScience

This webinar will cover methodologies for genome-wide screening with CRISPR/Cas9 in human pluripotent stem cells (hPSCs) and their neuronal progeny.

Sponsored by

This webinar is the third in a four-part series highlighting real-world examples of how some lab directors are bringing validated next-generation sequencing-based tests to the clinic.