期刊
BIOINFORMATICS
卷 25, 期 21, 页码 2865-2871出版社
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btp394
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资金
- Netherlands Genomics Initiative [050-72-436]
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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