RAREVATOR specifications

Information


Unique identifier OMICS_08308
Name RAREVATOR
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

Versioning


No version available

Maintainer


  • person_outline Alberto Magi

Publication for RAre REference VAriant annotaTOR

RAREVATOR citation

library_books

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

2018
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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