Exomiser 12.1.0
:: DESCRIPTION
The Exomiser is a Java program that functionally annotates and prioritises variants from whole-exome sequencing data starting from a VCF file.
::DEVELOPER
The Computational Biology @ Charité Berlin at the Institute for Medical Genetics and Human Genetics at Charité-Universitätsmedizin Berlin
:: SCREENSHOTS
N/A
:: REQUIREMENTS
- Windows/Linux
- Java
:: DOWNLOAD
:: MORE INFORMATION
Citation
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D.
Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113.