Next-generation diagnostics and disease-gene discovery with the Exomiser.
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ABSTRACT:
SUBMITTER: Smedley D
PROVIDER: S-EPMC5467691 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Publications
Next-generation diagnostics and disease-gene discovery with the Exomiser.
Smedley Damian D Jacobsen Julius O B JO Jäger Marten M Köhler Sebastian S Holtgrewe Manuel M Schubach Max M Siragusa Enrico E Zemojtel Tomasz T Buske Orion J OJ Washington Nicole L NL Bone William P WP Haendel Melissa A MA Robinson Peter N PN
Nature protocols 20151112 12
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 ...[more]
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