Sprites
The software tool "Sprites" aims to detect deletions, an important type of structural variations associated with genetic diseases, from sequencing data. It aligns a whole soft-clipping read to a target sequence to find the longest prefix or suffix of the read that has a match in the target sequence, in order to detect deletions with microhomologies and microinsertions. Sprites outperforms other current methods in detecting deletions in both simulated and real data in terms of F-score.
Topic
DNA;Sequencing;Sequence analysis
Detail
Operation: Sequence analysis;Gene prediction;Genetic variation analysis
Software interface: Command-line user interface
Language: C++
License: Not stated
Cost: Free
Version name: v0.3.0
Credit: National Natural Science Foundation of China
Input: bam
Output: -
Contact: zhangz@csu.edu.cn
Collection: -
Maturity: -
Publications
- Sprites: detection of deletions from sequencing data by re-aligning split reads.
- Zhang Z, et al. Sprites: detection of deletions from sequencing data by re-aligning split reads. Sprites: detection of deletions from sequencing data by re-aligning split reads. 2016; 32:1788-96. doi: 10.1093/bioinformatics/btw053
- https://doi.org/10.1093/bioinformatics/btw053
- PMID: 26833342
- PMC: -
Download and documentation
Source: https://github.com/zhangzhen/sprites/releases/tag/v0.3.0
Documentation: https://github.com/zhangzhen/sprites#readme
Home page: https://github.com/zhangzhen/sprites
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