Autoria: SILVA, J. M. da; ROMANIUC, A. R.; CAETANO, A. R.; GIACHETTO, P. F.; YAMAGISHI, M. E. B.

Resumo: CNVs (Copy Number Variations) are defined as copy number variations of DNA fragments typically larger than one kilobase (Kb), but less than five megabases (Mb). They represent a genomic disequilibrium that alters the ploidy in a specific locus within an individual, which may also be observed with varying frequencies within a population. An initial study estimated that 12% of the human genome shows this type of structural variation. Reliable tools have been developed to detect CNVs from molecular data produced with three main platforms: Comparative Genomic Hybridization (CGH) arrays, Single Nucleotide Polymorphism (SNP) genotyping arrays, and DNA Next-Generation Sequencing (NGS). However, processes for merging overlapping CNVs into a meaningful set of discrete Copy Number Variable Regions (CNVRs) need improvement, particularly when several CNV patterns co-exist within the same genomic locus. Available algorithms frequently merge noncontiguous CNVRs or fragment large CNVRs into multiple regions. A new web-based software (Java Merging Copy Number Variants: JM-CNV) was developed to address the aforementioned issues.

Ano de publicação: 2015

Tipo de publicação: Resumo em anais e proceedings

Unidade: Embrapa Agricultura Digital

Palavras-chave: Bioinformatics, Bioinformática, Computer software, Copy Number Variations