publication . Article . Other literature type . 2015

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

Name: Next-generation diagnostics and disease-gene discovery with the Exomiser
Keywords: Article

Enrico Siragusa; Enrico Siragusa; Damian Smedley; Peter N. Robinson; Max Schubach; Marten Jäger; Sebastian Köhler; Orion J. Buske; Tomasz Zemojtel; Tomasz Zemojtel; ...

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Open Access

Published: 12 Nov 2015 Journal: Nature Protocols, volume 10, pages 2,004-2,015 (issn: 1754-2189, eissn: 1750-2799,

Publisher: Springer Science and Business Media LLC

Summary
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Abstract

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 requi...

doi: 10.1038/nprot.2015.124

pmc: PMC5467691

pmid: 26562621

Subjects

free text keywords: Article, Biology, Computational biology, Disease gene, Suite, Variant Call Format, Exome, Genetic testing, medicine.diagnostic_test, medicine, Genetics, Sequence analysis, Exome sequencing, Software, business.industry, business

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