Next-generation diagnostics and disease-gene discovery with the Exomiser View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-11-12

AUTHORS

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

ABSTRACT

This protocol describes use of the Exomiser suite, a collection of algorithms that allow for prioritization of genes and variants from exome sequencing data for disease-gene discovery.

PAGES

2004-2015

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nprot.2015.124

    DOI

    http://dx.doi.org/10.1038/nprot.2015.124

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1028426805

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26562621


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