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OMIC
00068

Platypus

A tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect SNPs, MNPs, short indels, replacements and (using the assembly option) deletions up to several kb. It has been extensively tested on whole-genome, exon-capture, and targeted capture data.

Specifications

Software type:
Package
Interface:
Command line interface
Restrictions to use:
None
Operating system:
Unix/Linux
Programming languages:
C, Cython, Python
Computer skills:
Advanced
Stability:
Stable
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Publications

  • (Rimmer et al., 2014) Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nature genetics.
    PMID: 25017105

Classification

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