Article
A protein-centric approach for exome variant aggregation enables sensitive association analysis with clinical outcomes.
Human mutation - 1 May 2020
Li Ginny X H, Munro Dan, Fermin Damian, Vogel Christine, Choi Hyungwon
Abstract excerpt
Somatic mutations are early drivers of tumorigenesis and tumor progression. However, the mutations typically occur at variable positions across different individuals, resulting in the data being too sparse to test meaningful associations between variants and phenotypes. To overcome this challenge, we devised a novel approach called Gene-to-Protein-to-Disease (GPD) which accumulates variants into new sequence...
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