Constructing germline research cohorts from the discarded reads of clinical tumor sequences
Abstract
Hundreds of thousands of cancer patients have had targeted (panel) tumor sequencing to identify clinically meaningful mutations. In addition to improving patient outcomes, this activity has led to significant discoveries in basic and translational domains. However, the targeted nature of clinical tumor sequencing has a limited scope, especially for germline genetics. In this work, we assess the utility of discarded, off-target reads from tumor-only panel sequencing for the recovery of genome-wide germline genotypes through imputation.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Nov 08, 2021
- Source ID
- 10.1186/s13073-021-00999-4
Entities
People
- Alexander Gusev
- Kodi Taraszka
- Noah Zaitlen
- Stefan Groha
- Yevgeniy R. Semenov
Organizations
- Doris Duke Charitable Foundation
- National Institutes of Health
- United States Department of Defense