ParMap, an algorithm for the identification of small genomic insertions and deletions in nextgen sequencing data

<p>Abstract</p> <p>Background</p> <p>Next-generation sequencing produces high-throughput data, albeit with greater error and shorter reads than traditional Sanger sequencing methods. This complicates the detection of genomic variations, especially, small insertions and...

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Bibliographic Details
Main Authors: Palomero Teresa, Van Vlierberghe Pieter, Khiabanian Hossein, Ferrando Adolfo A, Rabadan Raul
Format: Article
Language:English
Published: BMC 2010-05-01
Series:BMC Research Notes
Online Access:http://www.biomedcentral.com/1756-0500/3/147
Description
Summary:<p>Abstract</p> <p>Background</p> <p>Next-generation sequencing produces high-throughput data, albeit with greater error and shorter reads than traditional Sanger sequencing methods. This complicates the detection of genomic variations, especially, small insertions and deletions.</p> <p>Findings</p> <p>Here we describe ParMap, a statistical algorithm for the identification of complex genetic variants, such as small insertion and deletions, using partially mapped reads in nextgen sequencing data.</p> <p>Conclusions</p> <p>We report ParMap's successful application to the mutation analysis of chromosome X exome-captured leukemia DNA samples.</p>
ISSN:1756-0500