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

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 prote...

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Vydáno v:Nat Protoc
Hlavní autoři: Smedley, Damian, Jacobsen, Julius O B, Jager, Marten, Köhler, Sebastian, Holtgrewe, Manuel, Schubach, Max, Siragusa, Enrico, Zemojtel, Tomasz, Buske, Orion J, Washington, Nicole L, Bone, William P, Haendel, Melissa A, Robinson, Peter N
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5467691/
https://ncbi.nlm.nih.gov/pubmed/26562621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nprot.2015.124
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