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Article

Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants.

Mutation research - 3 Jan 2012

Gundry Michael, Vijg Jan

Abstract excerpt

DNA mutations are the source of genetic variation within populations. The majority of mutations with observable effects are deleterious. In humans mutations in the germ line can cause genetic disease. In somatic cells multiple rounds of mutations and selection lead to cancer. The study of genetic variation has progressed rapidly since the completion of the draft sequence of the human genome. Recent advances in...

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Identifiers

PMID: 22016070
DOI: 10.1016/j.mrfmmm.2011.10.001
PMCID: PMC3237897

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