HD-CNV: hotspot detector for copy number variants | Zendy

Jenna Butler | Zendy; M Elizabeth O Locke | Zendy; Kathleen A. Hill | Zendy; Mark Daley | Zendy

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HD-CNV: hotspot detector for copy number variants

Author(s) -

Jenna Butler,

M Elizabeth O Locke,

Kathleen A. Hill,

Mark Daley

Publication year - 2012

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bts650

Subject(s) - copy number variation , computer science , copy number analysis , source code , biology , genetics , genome , gene , programming language

Copy number variants (CNVs) are a major source of genetic variation. Comparing CNVs between samples is important in elucidating their potential effects in a wide variety of biological contexts. HD-CNV (hotspot detector for copy number variants) is a tool for downstream analysis of previously identified CNV regions from multiple samples, and it detects recurrent regions by finding cliques in an interval graph generated from the input. It creates a unique graphical representation of the data, as well as summary spreadsheets and UCSC (University of California, Santa Cruz) Genome Browser track files. The interval graph, when viewed with other software or by automated graph analysis, is useful in identifying genomic regions of interest for further study.

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