Java Merging Copy Number Variants (JM-CNV): a new algorithm for identifying Copy Number Variant Regions (CNVR).
| dc.contributor | JOAQUIM MANOEL DA SILVA, Unemat; ALAN ROBERTO ROMANIUC, CNPTIA; ALEXANDRE RODRIGUES CAETANO, CENARGEN; POLIANA FERNANDA GIACHETTO, CNPTIA; MICHEL EDUARDO BELEZA YAMAGISHI, CNPTIA. | |
| dc.creator | SILVA, J. M. da | |
| dc.creator | ROMANIUC, A. R. | |
| dc.creator | CAETANO, A. R. | |
| dc.creator | GIACHETTO, P. F. | |
| dc.creator | YAMAGISHI, M. E. B. | |
| dc.date | 2016-01-15T11:11:11Z | |
| dc.date | 2016-01-15T11:11:11Z | |
| dc.date | 2016-01-15 | |
| dc.date | 2015 | |
| dc.date | 2020-01-21T11:11:11Z | |
| dc.date.accessioned | 2026-07-07T04:14:28Z | |
| dc.description | 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. | |
| dc.description | PAG 2015. Pôster P1170. | |
| dc.format | Não paginado. | |
| dc.identifier | In: PLANT & ANIMAL GENOME CONFERENCE, 23., 2015, San Diego, CA. [Abstracts...]. San Diego: [s.n.], 2015. | |
| dc.identifier | http://www.alice.cnptia.embrapa.br/alice/handle/doc/1034001 | |
| dc.identifier.uri | http://hdl.handle.net/123456789/455127 | |
| dc.language | eng | |
| dc.rights | openAccess | |
| dc.subject | Copy Number Variations | |
| dc.subject | Bioinformática | |
| dc.subject | Computer software | |
| dc.subject | Bioinformatics | |
| dc.title | Java Merging Copy Number Variants (JM-CNV): a new algorithm for identifying Copy Number Variant Regions (CNVR). | |
| dc.type | Resumo em anais e proceedings |