Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.

Seulki SongYoungil KohSeokhyeon KimSang Mi LeeHyun Uk KimJung Min KoSe-Hoon LeeSung-Soo YoonSolip Park

Published in: Genome medicine (2023)

Our findings suggest a possible cancer progression mechanism through metabolic profile alterations. Overall, our data indicates that pathogenic OMIM gene variants contribute to cancer progression and introduces new CPG classifications potentially underpinning diverse tumorigenesis mechanisms.

Keyphrases

papillary thyroid
copy number
squamous cell
dna methylation
gene expression
electronic health record
childhood cancer
deep learning
artificial intelligence
genome wide analysis