Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
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DOI: 10.3390/ijms19061584
Abstract: 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,… read more here.
Keywords: prioritization; mutation tolerance; mutation; mutational architecture ... See more keywords