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

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 e...

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Bibliographic Details
Main Authors: Iria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, Marta Segovia, María L. Couce
Format: Article
Language:English
Published: MDPI AG 2018-05-01
Series:International Journal of Molecular Sciences
Subjects:
rare disease diagnosis
variant prioritization
mutation tolerance
mutational architecture
next-generation sequencing
Online Access:http://www.mdpi.com/1422-0067/19/6/1584

Internet

http://www.mdpi.com/1422-0067/19/6/1584

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