URL: http://www.sanger.ac.uk/resources/databases/exomiser/query/exomiser2
Proper Citation: Exomiser (RRID:SCR_002192)
Description: A Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF (Variant Call Format) file (version 4). The functional annotation code is based on Annovar and uses UCSCKnownGene transcript definitions and hg19 genomic coordinates. Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, phenotype data from human and model organisms, and proximity in the interactome to phenotypically similar genes.
Abbreviations: Exomiser, Exomiser2
Synonyms: The Exomiser2: Annotate and Filter Variants, Exomiser2: Annotate and Filter Variants, Exomiser 2.0
Resource Type: service resource, data analysis service, analysis service resource, software resource, production service resource
Defining Citation: PMID:24162188
Keywords: java, functional annotation, function, variant, whole-exome sequencing, gene, phenotype, model organism
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