This article discusses the transition from traditional medical genetics to a more comprehensive approach using whole genome or exome data to study metabolic disorders. It highlights the Personal Genome Project's efforts to integrate genomic and phenotypic data to uncover subclinical and preclinical disease states. The study focuses on 88 genes involved in 68 metabolic disturbances with established nutritional and pharmacological therapies. The article emphasizes the potential of genomic individuality to guide detailed phenotyping and the importance of biochemical assays in verifying pathogenicity.
documents/EFTA01140307.pdf
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