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Article

Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2023

Li Mark M, Awasthi Sharad, Ghosh Sumanta, Bisht Deepa, Coban Akdemir Zeynep H, Sheynkman Gloria M, Sahni Nidhi, Yi S Stephen

Abstract excerpt

Traditionally, disease causal mutations were thought to disrupt gene function. However, it becomes more clear that many deleterious mutations could exhibit a "gain-of-function" (GOF) behavior. Systematic investigation of such mutations has been lacking and largely overlooked. Advances in next-generation sequencing have identified thousands of genomic variants that perturb the normal functions of proteins, further...

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PMID: 37191809
DOI: 10.1007/978-1-0716-3163-8_24
PMCID: PMC10476052

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