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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...
Autores principales: | Hombach, Daniela, Schuelke, Markus, Knierim, Ellen, Ehmke, Nadja, Schwarz, Jana Marie, Fischer-Zirnsak, Björn, Seelow, Dominik |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602447/ https://www.ncbi.nlm.nih.gov/pubmed/31106342 http://dx.doi.org/10.1093/nar/gkz330 |
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