Detecting Somatic Mutations in Normal Cells.

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Detecting Somatic Mutations in Normal Cells.

Trends Genet. 2018 May 03;:

Authors: Dou Y, Gold HD, Luquette LJ, Park PJ

Abstract
Somatic mutations have been studied extensively in the context of cancer. Recent studies have demonstrated that high-throughput sequencing data can be used to detect somatic mutations in non-tumor cells. Analysis of such mutations allows us to better understand the mutational processes in normal cells, explore cell lineages in development, and examine potential associations with age-related disease. We describe here approaches for characterizing somatic mutations in normal and non-tumor disease tissues. We discuss several experimental designs and common pitfalls in somatic mutation detection, as well as more recent developments such as phasing and linked-read technology. With the dramatically increasing numbers of samples undergoing genome sequencing, bioinformatic analysis will enable the characterization of somatic mutations and their impact on non-cancer tissues.

PMID: 29731376 [PubMed – as supplied by publisher]

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