New England Journal of Medicine · 2008 · 61 citations · 5 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsClinical GenomicsGenomic VariationStructural VariationVariant AnalysisVariant DetectionVariant InterpretationGenomic Structural VariationGenomic Variant AnalysisGenomic Variant Interpretation
The ultimate goal of personalized medicine is to comprehensively identify genetic differences among persons and to correlate specific genetic features (or combinations of genetic features) with the differential risk of human diseases or the efficacy of certain therapeutic interventions. This goal is likely to be achieved when we are able to identify all relevant forms of genetic variation in each person and are able to interpret this information in a clinically meaningful manner.The Human Genome Project revealed a very high degree of similarity between the DNA sequences of any two persons. These similarities unite us as a species. On . . .
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