Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
Taken together, our findings support the utility of GS as the sequencing backbone for germline genetic testing of cancer predisposition genes with improved detection, characterization, and clinical interpretation of SVs.
Authors
- Qiliang Ding (ORCID: https://orcid.org/0000-0003-1771-2891)
- Shubham Basu (ORCID: https://orcid.org/0000-0002-4509-9046)
- Rohit Setlem (ORCID: https://orcid.org/0000-0002-6783-9965)
- Heidi L Sellers (ORCID: https://orcid.org/0000-0003-0281-1635)
- Parisa K Kargaran
- Martin J. Bishop (ORCID: https://orcid.org/0000-0003-3357-1531)
- Sounak Gupta (ORCID: https://orcid.org/0000-0001-5163-6955)
- Belle A. Moyers (ORCID: https://orcid.org/0009-0009-4381-7540)
- Rhianna Urban (ORCID: https://orcid.org/0000-0001-6399-5015)
- Lauren A. Choate (ORCID: https://orcid.org/0000-0003-4246-0550)
- Megan Holdren
- Pratyush P. Tandale
- Mariam I. Stein (ORCID: https://orcid.org/0000-0001-8026-6279)
- Wei L. Shen (ORCID: https://orcid.org/0000-0002-3785-2245)
Institutions
- Mayo Clinic (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103459
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00