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Genovar

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Detects copy number variation (CNV) regions and provides a visual inspection function to reduce false positive CNV calls based on comparative genomic hybridization arrays (aCGH) and next generation sequencing (NGS) data. Genovar consists of three major components: (i) visualizes aCGH data and sequence alignment of chromosomal regions; (ii) provides a read-depth plot, and (iii) summary information of each read when a certain read is selected in the panel. The program also provides comprehensive information to help in the elimination of spurious signals by visual inspection, making Genovar a valuable tool for reducing false positive CNV results.

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Genovar forum

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Genovar classification

Genovar specifications

Software type:
Package/Module
Restrictions to use:
None
Programming languages:
Java
Stability:
Stable
Interface:
Command line interface
Operating system:
Unix/Linux
Computer skills:
Advanced
Maintained:
Yes

Genovar distribution

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No versioning.

Genovar support

Maintainer

  • Kwang Su Jung <>

Credits

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Publications

Institution(s)

Division of Bio-Medical Informatics, Center for Genome Science, Korea National Institute of Health, Osong, Korea; Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Osong, Korea

Funding source(s)

This work was supported by a grant from Korea Centers for Disease Control and Prevention (4845-301) and intramural grants from the Korea National Institute of Health (2011-N72001-00, 2008-N73002-00).

Link to literature

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