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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
  • genome wide
  • dna methylation
  • genome wide identification
  • lymph node metastasis
  • squamous cell carcinoma
  • childhood cancer
  • machine learning
  • young adults
  • deep learning