loading
LiteratureBiomedical imagesGene informationOthers
Exomiser logo
Subcategories: Sanger

The Exomiser is a Java applicationthat that finds potential disease-causing variants from whole-exome or whole-genome sequencing data. It is an opensource Java software package that can be downloaded and run on a single desktop computer. It filters and prioritizes candidate genes and variants from whole-exome or wholegenome sequencing data, with a special focus on phenotypic data. Users enter a patient’s clinical features and exome into the program, and Exomiser generates a scored list of candidate variants based on how frequently a variant occurs in the broader population; the type of mutation and how disruptive it may be; and potentially related genes, which may be implicated in a particular disease or clinical feature.(Smedley et al., Nature Protocols 10:2004, 2015). Registration not required.



Published on 2016-08-18 10:44:43 - Click here to edit or to add informations - Report as not working

<< PLINK - Whole genome association analysis toolset >> GSEA




We use cookies. By browsing our site you agree to our use of cookies. Accept cookies Find out more