Journal
GENOME BIOLOGY
Volume 14, Issue 10, Pages -Publisher
BMC
DOI: 10.1186/gb-2013-14-10-r120
Keywords
-
Funding
- Cariplo Foundation [2006_0771]
- Estonian Ministry of Education and Research. [SF0180027s10]
- European Commission FP7 funding, Project CHERISH [223692]
- Italian Ministry of Health's Young Investigators Award [GR-2009-1574072]
Ask authors/readers for more resources
We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at http://sourceforge.net/projects/excavatortool/.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available