HD-CNV: hotspot detector for copy number variants
| Autor: | Mark Daley, Kathleen A. Hill, Jenna L. Butler, Marjorie Elizabeth Osborne Locke |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Statistics and Probability
Power graph analysis DNA Copy Number Variations Computer science Karyotype Genomics Genome browser computer.software_genre Biochemistry Genome Genetic variation Humans Psychology natural sciences Copy-number variation Molecular Biology Genome Human Neurosciences Interval graph Computer Science Applications Computational Mathematics Computational Theory and Mathematics Human genome Data mining computer Software Human |
| Zdroj: | Brain and Mind Institute Researchers' Publications |
| ISSN: | 1367-4811 1367-4803 |
| DOI: | 10.1093/bioinformatics/bts650 |
| Popis: | Summary: 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. Availability and implementation: HD-CNV is an open source Java code and is freely available, with tutorials and sample data from http://daleylab.org. Contact: jcamer7@uwo.ca |
| Databáze: | OpenAIRE |
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