Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer
Our study provided valuable insights into the prevalence and frequency of P/LP germline variants in unselected Colombian CRC patients through NGS. Integrating advanced genomic analysis and artificial intelligence has proven instrumental in enhancing variant detection beyond conventional methods. Our functional validation results provide insights into the potential pathogenicity of intronic variants. These findings underscore the necessity of a multifaceted approach to unravel the complex genetic landscape of CRC.
Authors
- Mariana Angulo-Aguado (ORCID: https://orcid.org/0000-0003-2724-2950)
- Rodrigo Cabrera (ORCID: https://orcid.org/0000-0002-5731-1788)
- Dora Janeth Fonseca (ORCID: https://orcid.org/0000-0002-7323-6570)
- Diana Carolina Sierra-Díaz (ORCID: https://orcid.org/0009-0003-7892-9901)
- Andrés López‐Cortés (ORCID: https://orcid.org/0000-0003-1503-1929)
- Carlos Martín Restrepo (ORCID: https://orcid.org/0000-0001-6410-0084)
- Adrien Morel (ORCID: https://orcid.org/0000-0002-9654-6053)
- Sarah Orjuela-Amarillo (ORCID: https://orcid.org/0000-0002-3807-9469)
- Carlos Figueroa
- Cristiano G. Duque
- Nora Contreras Bravo
- Juliana Rodriguez-Salamanca
Institutions
- Universidad de Las Américas (EC)
- Universidad del Rosario (CO)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2025-05-19
- DOI
- https://doi.org/10.3389/fonc.2025.1568205
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.47
Funders
- Universidad del Rosario