利用基因组学的见解来增加治疗遗传疾病的可能性

Moyra J. Smith
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Using insights from genomics to increase possibilities for treatment of genetic diseases
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Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance, and clinical applications Expansion of methods of gene editing therapy and analysis of safety and efficacy Early documentation of inherited disorders through family studies Benefits of the incorporation of genomic medicine in clinical practice Standardized phenotype documentation, documentation of genotype phenotype correlations
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