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BMC Res Notes. 2010 May 27;3:147. doi: 10.1186/1756-0500-3-147.

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

Author information

1
Department of Biomedical Informatics, Columbia University College of Physicians and Surgeons, New York, NY, USA. hossein@c2b2.columbia.edu.

Abstract

BACKGROUND:

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.

FINDINGS:

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.

CONCLUSIONS:

We report ParMap's successful application to the mutation analysis of chromosome X exome-captured leukemia DNA samples.

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