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

Variations in these genes have been reported in large cohorts of patients with highly significant associations with the development of CRC, such as MSH2 (OR: 18.1), MLH1 (OR: 8.6), and APC (OR: 49.4), supporting the importance of germline variant identification studies in an unselected population to contribute to the generation of genetic assessment policies and variant interpretation in CRC ( 95 ).

also in 132,142 other papers