Open access
Jan 2026
Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing
It is demonstrated that cryptic pathogenic APC variants beyond the detection limits of routine genetic testing can be resolved through WGS combined with transcript‐level validation, highlighting the importance of transcript‐aware variant interpretation and supports the integration of genome‐wide sequencing and RNA‐based analyses into the diagnostic evaluation of genetically unexplained FAP.
Sung-Ryung Choi, Min Jung Kim, Ja-Lok Ku et al.
· Human Mutation · 0 citations