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

Abstract excerpt

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 step in the process of rare disease diagnosis. In addition to conducting the usual in-silico analyses to predict...

Topics

• DNA Mutational Analysis
• Female
• Genetic Diseases, Inborn
• High-Throughput Nucleotide Sequencing
• Humans
• Male
• Mutation
• Rare Diseases