Exomiser specifications

Information


Unique identifier OMICS_05448
Name Exomiser
Interface Web user interface
Restrictions to use None
Input data The called variants resulting from exome sequencing of a rare disease patient and, optionally, other affected and unaffected family members.
Input format VCF
Programming languages Java
Computer skills Basic
Stability Stable
Maintained Yes

Taxon


  • Animals
    • Homo sapiens

Download


Documentation


Maintainer


  • person_outline Peter Robinson <>

Additional information


Previous version: https://www.sanger.ac.uk/science/tools/exomiser http://exomiser.github.io/Exomiser/

Information


Unique identifier OMICS_05448
Name Exomiser
Software type Toolkit/Suite
Interface Command line interface
Restrictions to use None
Input data The called variants resulting from exome sequencing of a rare disease patient and, optionally, other affected and unaffected family members.
Input format VCF
Output data An HTML page that summarizes the results of the analysis.
Operating system Unix/Linux
Programming languages Java
License GNU Affero General Public License version 3
Computer skills Advanced
Version 10.1.0
Stability Stable
Maintained Yes

Taxon


  • Animals
    • Homo sapiens

Download


Versioning


Add your version

Documentation


Maintainer


  • person_outline Peter Robinson <>

Additional information


Previous version: https://www.sanger.ac.uk/science/tools/exomiser http://exomiser.github.io/Exomiser/

Publications for Exomiser

Exomiser institution(s)
Skarnes Faculty Group, Wellcome Trust Sanger Institute, Hinxton, UK; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany; Berlin Institute for Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland; Labor Berlin - Charité Vivantes, Humangenetik, Berlin, Germany; Department of Computer Science, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA; The National Institutes of Health (NIH) Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA; Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Berlin, Germany
Exomiser funding source(s)
Supported by the Bundesministerium für Bildung und Forschung (BMBF; project no. 0313911), the European Community’s Seventh Framework Programme (grant agreement no. 602300; SYBIL) and NIH grant no. 5R24OD011883 (Monarch Initiative).

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