4.7 Article

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

Journal

BIOINFORMATICS
Volume 25, Issue 21, Pages 2865-2871

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btp394

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Funding

  1. Netherlands Genomics Initiative [050-72-436]

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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.

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