Genovar: a detection and visualization tool for genomic variants.

ABSTRACT:

Background

Along 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 visuali

SUBMITTER: Jung KS 

PROVIDER: S-EPMC3348018 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature