BioTechniques (Jun 2014)

A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue

  • Ignacio Erquiaga,
  • Cristina Hurtado,
  • Paula Aranaz,
  • Francisco J. Novo,
  • José L. Vizmanos

DOI
https://doi.org/10.2144/000114180
Journal volume & issue
Vol. 56, no. 6
pp. 327 – 329

Abstract

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When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of heterozygosity (LoH) events in DNA samples where no matched tissue sample is available. Our method makes use of heterozygous polymorphisms that are located near the putative mutation to trace both germinal alleles.

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