Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity.

Abstract excerpt

The advent of next-generation sequencing has expanded our understanding of the genotypic, pathobiological, and phenotypic spectrum of human disease, helping to inform more personalized patient care. Current clinical guidelines are prompting the generation of large volumes of clinical diagnostic genome sequencing data, but we remain unable to interpret variants found in the noncoding 98.5% of sequencing data. In...

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• Evolution, Molecular
• Genetic Predisposition to Disease
• Genetic Variation
• Genome, Human
• High-Throughput Nucleotide Sequencing
• Immunity