Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

The biggest challenge geneticists face when applying next-generation sequencing technology to the diagnosis of rare diseases is determining which rare variants, from the dozens or hundreds detected, are potentially implicated in the patient’s phenotype. Thus, variant prioritization is an essential s...

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Detalles Bibliográficos
Autores principales: Roca, Iria, Fernández-Marmiesse, Ana, Gouveia, Sofía, Segovia, Marta, Couce, María L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032105/
https://www.ncbi.nlm.nih.gov/pubmed/29861492
http://dx.doi.org/10.3390/ijms19061584

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