PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

• DOI: 10.1093/bioinformatics/bty536
• Publication Date: 2018-06-29T03:10:31Z
• Authors: Peng Zhang; Benedetta Bigio; Franck Rapaport; Shen-Ying Zhang; Jean-Laurent Casa...; Laurent Abel; Bertrand Boisson; Yuval Itan
• Keywords: Minor allele frequency; Minor (academic)

Next-generation sequencing (NGS) generates large amounts of genomic data and reveals about 20 000 genetic coding variants per individual studied. Several mutation damage prediction scores are available to prioritize variants, but there is currently no application help investigators determine the relevance candidate genes quickly visually from population genetics deleteriousness scores. Here, we present PopViz, a user-friendly, rapid, interactive, mobile-compatible webserver providing gene-centric visualization any human gene, with (i) population-specific minor allele frequencies gnomAD database; (ii) CADD, EIGEN LINSIGHT (iii) amino-acid positions protein domains. This will be particularly useful in investigations NGS for new disease-causing by reinforcing or rejecting plausibility genes, selecting prioritizing, experimental testing.PopViz freely accessible http://shiva.rockefeller.edu/PopViz/.Supplementary at Bioinformatics online.