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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads.


ABSTRACT: MOTIVATION: There is a strong demand in the genomic community to develop effective algorithms to reliably identify genomic variants. Indel detection using next-gen data is difficult and identification of long structural variations is extremely challenging. RESULTS: We present Pindel, a pattern growth approach, to detect breakpoints of large deletions and medium-sized insertions from paired-end short reads. We use both simulated reads and real data to demonstrate the efficiency of the computer program and accuracy of the results. AVAILABILITY: The binary code and a short user manual can be freely downloaded from http://www.ebi.ac.uk/ approximately kye/pindel/. CONTACT: k.ye@lumc.nl; zn1@sanger.ac.uk.

SUBMITTER: Ye K 

PROVIDER: S-EPMC2781750 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature

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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads.

Ye Kai K   Schulz Marcel H MH   Long Quan Q   Apweiler Rolf R   Ning Zemin Z  

Bioinformatics (Oxford, England) 20090626 21


<h4>Motivation</h4>There is a strong demand in the genomic community to develop effective algorithms to reliably identify genomic variants. Indel detection using next-gen data is difficult and identification of long structural variations is extremely challenging.<h4>Results</h4>We present Pindel, a pattern growth approach, to detect breakpoints of large deletions and medium-sized insertions from paired-end short reads. We use both simulated reads and real data to demonstrate the efficiency of th  ...[more]

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