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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: analysis service resource, data analysis service, production service resource, service resource, software resource
Defining Citation: PMID:24162188
Keywords: java, functional annotation, function, variant, whole-exome sequencing, gene, phenotype, model organism
Availability: Free, Freely available
Resource Name: Exomiser
Resource ID: SCR_002192
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Source: SciCrunch Registry (RRID:SCR_005400)
Description: Interactive portal for finding and submitting biomedical resources. Resources within SciCrunch have assigned RRIDs which are used to cite resources in scientific manuscripts. SciCrunch Registry, formerly NIF Registry, provides resources catalog. Allows to add new resources. Allows edit existing resources after registration. Curators are tasked with identifying and registering resources, examining data, writing configuration files to index and display data and keeping contents current.
URL: https://rrid.site/rin/sources/SCR_005400
The NIDDK Information Network (dkNET) serves the needs of basic and clinical investigators by providing seamless access to large pools of data and research resources relevant to the mission of The National Institute of Diabetes Digestive and Kidney Diseases (NIDDK). dkNET is hosted at University of California San Diego, and is supported by NIH NIDDK grant U24DK097771.
Email: info_at_ dknet.org
