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MutationDistiller: user-driven identification of pathogenic DNA variants

MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians. MutationDistiller combines MutationTaster's pathogenicity predictions...

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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: Hombach, Daniela, Schuelke, Markus, Knierim, Ellen, Ehmke, Nadja, Schwarz, Jana Marie, Fischer-Zirnsak, Björn, Seelow, Dominik
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6602447/
https://ncbi.nlm.nih.gov/pubmed/31106342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz330
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