Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer

BackgroundColorectal cancer (CRC) is recognized as a multifactorial disease, where both genetic and environmental factors play critical roles in its development and progression. The identification of pathogenic germline variants has proven to be a valuable tool for early diagnosis, the implementatio...

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Bibliographic Details
Main Authors: Juliana Rodriguez-Salamanca, Mariana Angulo-Aguado, Sarah Orjuela-Amarillo, Catalina Duque, Diana Carolina Sierra-Díaz, Nora Contreras Bravo, Carlos Figueroa, Carlos M. Restrepo, Andrés López-Cortés, Rodrigo Cabrera, Adrien Morel, Dora Janeth Fonseca-Mendoza
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Oncology
Subjects:
next generation sequencing (NGS)
pathogenic germline variants
artificial intelligence
minigene assay
functional validation
colorectal cancer
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2025.1568205/full
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