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An optimized prediction framework to assess the functional impact of pharmacogenetic variants

Prediction of phenotypic consequences of mutations constitutes an important aspect of precision medicine. Current computational tools mostly rely on evolutionary conservation and have been calibrated on variants associated with disease, which poses conceptual problems for assessment of variants in p...

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Detalles Bibliográficos
Autores principales: Zhou, Yitian, Mkrtchian, Souren, Kumondai, Masaki, Hiratsuka, Masahiro, Lauschke, Volker M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462826/
https://www.ncbi.nlm.nih.gov/pubmed/30206299
http://dx.doi.org/10.1038/s41397-018-0044-2