Powered by OpenAIRE graph
Found an issue? Give us feedback
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ ZENODOarrow_drop_down
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Software
Data sources: ZENODO
addClaim

SnapVar: interactive visualization of human genetic variants in transcript and protein context

Authors: Maurya, Anand;

SnapVar: interactive visualization of human genetic variants in transcript and protein context

Abstract

SnapVar is a web application for visualizing human genetic variants on the GRCh38 reference assembly. Submitted variants are displayed as lollipops on the gene's transcript structure and protein domain architecture. Each lollipop is colored by predicted consequence class and labeled with HGVS cDNA notation and HGVS protein notation. Population allele frequencies from gnomAD v4.1 and 1000 Genomes Phase 3, and ClinVar germline classifications, are shown as separate annotation tracks within the same figure. The figure is interactive: it supports pan, zoom, and element-level tooltips. It can be exported as an SVG for direct inclusion in a manuscript or presentation. Downloadable annotation tables in CSV format are provided alongside each figure. SnapVar accepts genomic coordinates (GRCh38), dbSNP rsIDs, HGVS cDNA notation, HGVS protein notation, and VCF file upload. These formats can be mixed in a single query. Annotation is fetched dynamically from Ensembl VEP, gnomAD v4.1, ClinVar, UniProt, and InterPro. This record contains the application note (PDF) describing SnapVar version 1.0.0. The application is freely available at https://snapvar.onrender.com.

Powered by OpenAIRE graph
Found an issue? Give us feedback