GENOMICSACHIEVEMENTS AND CHALLENGES

来源 :The 2nd International Rare Diseases Research Consortium Conf | 被引量 : 0次 | 上传用户:a175758624
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Genomics has the potential to change the practice of science by genomic disease profiles that predict prognosis,and have therapeutic relevance.Currently there is already significant impact on medicine because sequencing allows an accurate diagnosis for the 6% of the population that carry a high-impact mutation that causes a rare disease.Such individuals are often not diagnosed until relatively late because few doctors recognize these conditions and until recently,a reliable test was not available.
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