A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data
Authors:
Open Access
- 1 October 2012
- journal article
- unit
- Published by Wiley in Current Protocols in Human Genetics
- Vol. 75 (1) , 7.19.1-7.19.15
Abstract
Copy‐number variation (CNV) is a major class of genomic variation with potentially important functional consequences in both normal and diseased populations. Remarkable advances in development of next‐generation sequencing (NGS) platforms provide an unprecedented opportunity for accurate, high‐resolution characterization of CNVs. In this unit, we give an overview of available computational tools for detection of CNVs and discuss comparative advantages and disadvantages of different approaches. Curr. Protoc. Hum. Genet. 75:7.19.1‐7.19.15. © 2012 by John Wiley & Sons, Inc.Keywords
This publication has 73 references indexed in Scilit:
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsNature Biotechnology, 2011
- Integrative genomics viewerNature Biotechnology, 2011
- Large, rare chromosomal deletions associated with severe early-onset obesityNature, 2009
- Origins and functional impact of copy number variation in the human genomeNature, 2009
- Large recurrent microdeletions associated with schizophreniaNature, 2008
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's diseaseNature Genetics, 2008
- FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunityNature Genetics, 2007
- Global variation in copy number in the human genomeNature, 2006
- Fine-scale structural variation of the human genomeNature Genetics, 2005
- BLAT—The BLAST-Like Alignment ToolGenome Research, 2002