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AI工具PromoterAI识别致病启动子突变,可解释6%罕见遗传病成因
(背景延伸:根据《自然遗传学》2023年报道,非编码区域占人类基因组的98%以上,但其功能研究一直是基因组学的重大挑战。传统的基因检测主要关注蛋白质编码序列,仅能解释约三分之一的罕见遗传病病例。) ...
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