Supported Applications

Platypus

  • Description

    Platypus is 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, it has been run on very large datasets as part of the Thousand Genomes and WGS500 projects, and is being used in clinical sequencing trials in the Mainstreaming Cancer Genetics programme.

  • Installation

    Use the following command to install this title with the CLI client: $ biogrids-cli install platypus Copy to clipboard
  • Primary Citation*

    A. Rimmer, H. Phan, Mathieson I, Z. Iqbal, S. R. F. Twigg, W. Consortium, A. O. M. Wilkie, G. McVean, and L. G.. 2014. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet. 46(8): 912-918.


    • *Full citation information available through

  • Keywords

    Variant Analysis

  • Default Versions

    Linux 64:  0.8.1.2
    OS X INTEL:  0.8.1.2

Scroll