Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

Abstract excerpt

Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during a 5-year period in which 16,482 index patients received clinical whole-exome sequencing (WES). UFs were identified in 0.58% (95/16,482) of index patients, indicating...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic factors in colorectal cancer
• Share to Genomic variations and chromosomal abnormalities
• Share to Genomics and Rare Diseases