EXCAVATOR 2.2 / EXCAVATOR2 1.1.2 / XCAVATOR – Tool for Detecting CNVs from Whole-exome Sequencing data

EXCAVATOR 2.2 / EXCAVATOR2 1.1.2 / XCAVATOR

:: DESCRIPTION

EXCAVATOR is a novel software package for the detection and classification of genomic regions involved in copy numner variants that uses whole-exome sequencing data generated by second generation sequencing technologies.

Advertisement

EXCAVATOR2 is a collection of bash, R and Fortran scripts and codes that analyses Whole Exome Sequencing (WES) data to identify CNVs. EXCAVATOR2 enhances the identification of all genomic CNVs, both overlapping and non-overlapping targeted exons by integrating the analysis of In-targets and Off- targets reads.

XCAVATOR is a novel software package for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments.

::DEVELOPER

EXCAVATOR team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • MacOsX/Linux
  • R package
  • Perl
  • Fortron

:: DOWNLOAD

 EXCAVATOR / EXCAVATOR2 / XCAVATOR

:: MORE INFORMATION

Citation

Magi A, Pippucci T, Sidore C.
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.
BMC Genomics. 2017 Sep 21;18(1):747. doi: 10.1186/s12864-017-4137-0. PMID: 28934930; PMCID: PMC5609061.

D’Aurizio R, Pippucci T, Tattini L, Giusti B, Pellegrini M, Magi A.
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.
Nucleic Acids Res. 2016 Nov 16;44(20):e154. doi: 10.1093/nar/gkw695. Epub 2016 Aug 9. PMID: 27507884; PMCID: PMC5175347.

Genome Biol. 2013;14(10):R120.
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
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.