RAREVATOR specifications


Unique identifier OMICS_08308
Alternative name RAre REference VAriant annotaTOR
Software type Application/Script
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Perl
Computer skills Advanced
Stability Stable
Maintained Yes


No version available


  • person_outline Alberto Magi

Publication for RAre REference VAriant annotaTOR

RAREVATOR citation


Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

BMC Genomics
PMCID: 5769444
PMID: 29334895
DOI: 10.1186/s12864-018-4433-3

[…] ozygous reference variants in exome and genome experiments.Magi et al. [] studied the count and annotation of “rare” reference alleles in 1000 Genomes data and developed a specialized variant caller (RAREVATOR). Dewey et al. [] used a modified version of the human genome as a “major allele” population specific reference. These approaches have some limitations as we discuss later. We studied the la […]

RAREVATOR institution(s)
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy; Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; Institute for Biomedical Technologies, National Research Council, Milan, Italy; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy
RAREVATOR funding source(s)
Supported by Italian Ministry of Health, Young Investigators Award, Project GR-2009-1574072 and Project GR-2011-02352026 ’Detecting copy number variants from whole-exome sequencing data applied to acute myeloid leukemias’.


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