Back to search

Article

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

2022-09-22

Abstract excerpt

<h4>PURPOSE</h4> Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS reported on diagnostic testing via multi-gene panels (MGPs) and exome and genome sequencing (ES/GS) to measure the magnitude of uncertain results and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
c9564436-2985-57aa-9248-43fd6089b694
DOI
10.1101/2022.09.21.22279949
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeDOI 10.1101/2022.09.21.22279949
Select a neighboring publication to make it the new centre.