ExomeDepth

A tool for calling copy number variation (CNV) from targeted exome sequencing data. ExomeDepth tool is specifically designed to address technical variability between the samples.

Topic

Genetics;Genetic variation;Exome sequencing;Gene transcripts;Mapping;Sequencing

Detail

  • Operation: Sequence analysis;Variant calling;Genotyping;Copy number estimation

  • Software interface: R Library

  • Language: R

  • License: GNU General Public License v3

  • Cost: Free

  • Version name: 1.1.10

  • Credit: Wellcome Trust grant (088838/Z/09/Z), the Royal Society Research grant RG090638;, the EU FP7 grant (261441;) (PEVNET project) and the ERC Starting grant (260477 to S.N.); the NIHR Cambridge Biomedical Research Centre (to DK and RD); MRC research grant (G1001158) and the NIHR Moorfields Biomedical Research Council grant (to V.P.).

  • Input: -

  • Output: -

  • Contact: v.plagnol@ucl.ac.uk

  • Collection: -

  • Maturity: Mature

Publications

  • A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
  • Plagnol V, et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. 2012; 28:2747-54. doi: 10.1093/bioinformatics/bts526
  • https://doi.org/10.1093/bioinformatics/bts526
  • PMID: 22942019
  • PMC: PMC3476336

Download and documentation

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