CEQer

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Application data

Created by Piazza Rocco
Biological application domain(s) Exome analysis, Copy number estimation, Genetic variation analysis
Technology Any
Created at University of Milano-Bicocca
Maintained? Yes
Input format(s) SAM/BAM, Pileup
Output format(s) Graphical
Software features Copy number and allelic imbalance analyses from matched exomes.
Programming language(s) C#
Interface type(s) Command line
Resource type(s) Command-line tool
Licence GPLv3
Operating system(s) Windows, Mac, Linux
Contact: rocco.piazza@unimib.it

Summary: CEQer (Comparative Exome Quantification analyzer) is a graphical, event-driven tool for copy number abnormalities/allelic-imbalance coupled analysis of whole-exome sequencing data. By using case-control matched exome data, CEQer performs a comparative digital exonic quantification to generate CNA data and couples this information with exome-wide LOH and allelic imbalance detection. 200px|right

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Description

Copy number alterations (CNA) are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH) is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to perform only low resolution Loss of Heterozygosity (LOH) analyses. CEQer (Comparative Exome Quantification analyzer) is a graphical, event-driven tool for CNA/allelic-imbalance (AI) coupled analysis of exome sequencing data. By using case-control matched exome data, CEQer performs a comparative digital exonic quantification to generate CNA data and couples this information with exome-wide LOH and allelic imbalance detection. This data is used to build mixed statistical/heuristic models allowing the identification of CNA/AI events.


Links


References

  1. . 2013. PLoS One


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