Next-generation diagnostics and disease-gene discovery with the Exomiser

Damian Smedley, Julius O.B. Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J. Buske, Nicole L. Washington, William P. Bone, Melissa A. Haendel, Peter N. Robinson

Research output: Contribution to journalArticlepeer-review

177 Scopus citations


Exomiser is an application that prioritizes genes and variants in next-generation sequencing (NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian disease. Exomiser comprises a suite of algorithms for prioritizing exome sequences using random-walk analysis of protein interaction networks, clinical relevance and cross-species phenotype comparisons, as well as a wide range of other computational filters for variant frequency, predicted pathogenicity and pedigree analysis. In this protocol, we provide a detailed explanation of how to install Exomiser and use it to prioritize exome sequences in a number of scenarios. Exomiser requires ∼3 GB of RAM and roughly 15-90 s of computing time on a standard desktop computer to analyze a variant call format (VCF) file. Exomiser is freely available for academic use from

Original languageEnglish (US)
Pages (from-to)2004-2015
Number of pages12
JournalNature protocols
Issue number12
StatePublished - Dec 1 2015

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


Dive into the research topics of 'Next-generation diagnostics and disease-gene discovery with the Exomiser'. Together they form a unique fingerprint.

Cite this