Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing
This study underscores the utility of RNA-seq to detect variants that affect splicing and could have an impact on cancer risk assessment management and treatment.
Authors
- Sara L. Bristow (ORCID: https://orcid.org/0000-0002-1173-4718)
- J. Bryce Ortiz
- Wenbo Xu
- Fan Xia (ORCID: https://orcid.org/0000-0002-4974-9851)
- Adam C. ElNaggar (ORCID: https://orcid.org/0000-0003-3409-583X)
- Sheetal Parmar (ORCID: https://orcid.org/0009-0002-6577-232X)
- Youbao Sha (ORCID: https://orcid.org/0000-0001-7655-4825)
- Kate Loranger
- Linyan Meng
- Xiaonan Zhao (ORCID: https://orcid.org/0000-0001-9941-8930)
Institutions
- Baylor College of Medicine (US)
- Natera (United States) (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2024-12-10
- DOI
- https://doi.org/10.1016/j.gimo.2024.101914
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.42