Título:	Java Merging Copy Number Variants (JM-CNV): a new algorithm for identifying Copy Number Variant Regions (CNVR).
Autoria:	SILVA, J. M. da ROMANIUC, A. R. CAETANO, A. R. GIACHETTO, P. F. YAMAGISHI, M. E. B.
Afiliação:	JOAQUIM MANOEL DA SILVA, Unemat; ALAN ROBERTO ROMANIUC, CNPTIA; ALEXANDRE RODRIGUES CAETANO, CENARGEN; POLIANA FERNANDA GIACHETTO, CNPTIA; MICHEL EDUARDO BELEZA YAMAGISHI, CNPTIA.
Ano de publicação:	2015
Referência:	In: PLANT & ANIMAL GENOME CONFERENCE, 23., 2015, San Diego, CA. [Abstracts...]. San Diego: [s.n.], 2015.
Páginas:	Não paginado.
Conteúdo:	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.
NAL Thesaurus:	Computer software Bioinformatics
Palavras-chave:	Copy Number Variations Bioinformática
Notas:	PAG 2015. Pôster P1170.
Tipo do material:	Resumo em anais e proceedings
Acesso:	openAccess
Aparece nas coleções:	Resumo em anais de congresso (CNPTIA)