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URL: http://jjwanglab.org/snvrap
Proper Citation: SNVrap (RRID:SCR_010512)
Description: The web portal provides comprehensive local database of human genome variants with a user-friendly web page that provides a one-stop annotating and funtonal prediction service which is both convenient and up-to-date. A query can be accepted as either a dbSNP Id or a chromosomal location and our system will instantly provide all the annotation information in an interactive LD panel. The system can also simultaneously prioritize this variant based on additive effect mode by corresponding annotation information and evaluate the variant effect that is then displayed in a prioritization tree. Furthermore, cohort sequencing continuously produces lots of un-annotated variants such as rare variants or de novo variants, and our system can even fit this data by accepting genomic coordinates (hg19) to offer maximal annotations. Main Functions Over 40 up-to-date annotation items for human single nucleotide variations; Functional prediction for different types of variants; Dynamic LD panel for both HapMap and 1000 Genomes Project populations; Prioritization score and tree viewer based on variant functional model.
Resource Type: web service, data analysis service, analysis service resource, data set, data or information resource, production service resource, service resource, data access protocol, software resource
Defining Citation: PMID:25308971
Keywords: genetic variant, prioritize, genome, chromosome, functional prediction, transcription factor-binding site, mirna, mirna target site, prediction, target site, transcription factor, binding site, statistics, trait/disease-associated snp, single nucleotide polymorphism
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