EXCAVATOR is a tool for detecting copy number variation (CNV) in whole-genome exome sequencing data. The EXCAVATOR algorithm uses a hidden Markov model (HMM) and a method that classifies genomic regions into five CNV states.
EXCAVATOR is a tool for detecting copy number variation (CNV) in whole-genome exome sequencing data. The EXCAVATOR algorithm uses a hidden Markov model (HMM) and a method that classifies genomic regions into five CNV states.
Credit:
The Cariplo Foundation, Estonian Ministry of Education and Research, European Commission FP7 funding, Project CHERISH, the Italian Ministry of Health’s Young Investigators Award.
Magi A, Tattini L, Cifola I, D'Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF "EXCAVATOR: detecting copy number variants from whole-exome sequencing data." Genome Biol. 2013;14(10):R120. https://doi.org/10.1186/gb-2013-14-10-r120
PMID: 24172663
PMCID: PMC4053953