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

ABSTRACT:

Summary

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 to help investigators to determine the relevance of the candidate genes and variants quickly and visually from population genetics data and deleteriousness scores. Here, we present PopViz, a user-friendly, rapid, interactive, mobile-compatible webserver providing a gene-centric visualization of the variants of any human gene, with (i) population-specific minor allele frequencies from the gnomAD population genetic database; (ii) mutation damage prediction scores from CADD, EIGEN and LINSIGHT and (iii) amino-acid pos

SUBMITTER: Zhang P 

PROVIDER: S-EPMC6289133 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature