ExoCNVTest specifications


Unique identifier OMICS_05445
Name ExoCNVTest
Software type Pipeline/Workflow
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Java, R
Computer skills Advanced
Version 0.51
Stability Stable
Maintained Yes


No version available


  • person_outline Lachlan J.M. Coin

Publication for ExoCNVTest

ExoCNVTest citations


Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

PMCID: 4194081
PMID: 25342930
DOI: 10.1186/1472-6815-14-9

[…] ods on CNV detections from NGS data are designed for examining CNVs on the whole genome or whole exome scale, with specific mathematical models applied in the algorithms []. For example, JointSLM and ExoCNVTest are designed to detect common CNVs shared among many samples. CoNIFER and XHMM are made to detect rare CNVs using population data. In our approach, we used the average read-depth of samples […]


Computational tools for copy number variation (CNV) detection using next generation sequencing data: features and perspectives

BMC Bioinformatics
PMCID: 3846878
PMID: 24564169
DOI: 10.1186/1471-2105-14-S11-S1

[…] e.To assist researchers in selecting the proper NGS tool(s) for their CNV studies, here, we summarize our discussion of SV-detecting tools collected in this paper. Several tools, such as JointSLM and ExoCNVTest, are applicable to detect common CNVs shared among multiple samples, while CoNIFER and XHMM are good for rare CNV identification from a population of WES samples. Additionally, Pindel is an […]

ExoCNVTest institution(s)
Department of Genomics of Common Disease, Imperial College London, London, UK

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