Genovar: a detection and visualization tool for genomic variants

BMC Bioinformatics

Proceedings

Kiejung Park¹  Kwang Su Jung¹  Young Jin Kim²  Bong-Jo Kim²  Sanghoon Moon² 

[1] Division of Bio-Medical Informatics, Center for Genome Science, Korea National Institute of Health, 363-951, Osong, Korea;Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, 363-951, Osong, Korea;

关键词: Next Generation Sequencing;    Copy Number Variation;    Next Generation Sequencing Data;    Spurious Signal;    Copy Number Variation Region;   

DOI  :  10.1186/1471-2105-13-S7-S12

来源: Springer

【 摘 要 】

BackgroundAlong with single nucleotide polymorphisms (SNPs), copy number variation (CNV) is considered an important source of genetic variation associated with disease susceptibility. Despite the importance of CNV, the tools currently available for its analysis often produce false positive results due to limitations such as low resolution of array platforms, platform specificity, and the type of CNV. To resolve this problem, spurious signals must be separated from true signals by visual inspection. None of the previously reported CNV analysis tools support this function and the simultaneous visualization of comparative genomic hybridization arrays (aCGH) and sequence alignment. The purpose of the present study was to develop a useful program for the efficient detection and visualization of CNV regions that enables the manual exclusion of erroneous signals.ResultsA JAVA-based stand-alone program called Genovar was developed. To ascertain whether a detected CNV region is a novel variant, Genovar compares the detected CNV regions with previously reported CNV regions using the Database of Genomic Variants (DGV, http://projects.tcag.ca/variation) and the Single Nucleotide Polymorphism Database (dbSNP). The current version of Genovar is capable of visualizing genomic data from sources such as the aCGH data file and sequence alignment format files.ConclusionsGenovar is freely accessible and provides a user-friendly graphic user interface (GUI) to facilitate the detection of CNV regions. 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. Availability: http://genovar.sourceforge.net/.

【 授权许可】

Unknown   
© Jung et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.