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.
| Original language | English |
|---|---|
| Pages (from-to) | 2865-2871 |
| Number of pages | 7 |
| Journal | Bioinformatics |
| Volume | 25 |
| Issue number | 21 |
| DOIs | |
| State | Published - 2009 |
| Externally published | Yes |
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