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

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...

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Bibliographic Details
Main Authors: Ignacio Erquiaga, Cristina Hurtado, Paula Aranaz, Francisco J. Novo, José L. Vizmanos
Format: Article
Language:English
Published: Taylor & Francis Group 2014-06-01
Series:BioTechniques
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Online Access:https://www.future-science.com/doi/10.2144/000114180
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Summary: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.
ISSN:0736-6205
1940-9818