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


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