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Quantitative Thresholds for Variant Enrichment in 13,845 Cases: Improving Pathogenicity Classification in Genetic Hearing Loss

Sihan Liu,Mingjun Zhong, Yu Huang,Qian Zhang,Ting Chen,Xiaofei Xu,Wan Peng, Xiaolu Wang,Xiaoshu Feng,Lu Kang,Yu Lu,Jing Cheng,Fengxiao Bu,Huijun Yuan

GENOME MEDICINE（2023）

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关键词
PS4,ACMG/AMP guidelines,Variant classification,Cohort dataset,Hearing loss
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