Article
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.
Genome medicine - 25 Dec 2023
Song Seulki, Koh Youngil, Kim Seokhyeon, Lee Sang Mi, Kim Hyun Uk, Ko Jung Min, Lee Se-Hoon, Yoon Sung-Soo, Park Solip
Abstract excerpt
BACKGROUND: Despite the acceleration of somatic driver gene discovery facilitated by recent large-scale tumor sequencing data, the contribution of inherited variants remains largely unexplored, primarily focusing on previously known cancer predisposition genes (CPGs) due to the low statistical power associated with detecting rare pathogenic variant-phenotype associations. METHODS: Here, we introduce a generalized...
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