专家访谈
擅长杜氏肌营养不良、苯丙酮尿症、血友病、遗传性耳聋、白化病、唐氏综合征等家族性遗传病和染色体病的遗传咨询、治疗和产前诊断。《中华医学遗传学杂志》编委,中国优生科学协会常务理事。
 
中国首批基因组及生物信息学人才,拥有近十年第二代测序及基因组大数据分析解读经验,完成重大遗传病基因组研究项目10 余项,发现 6 个人类遗传病基因及其致病机制。
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2018-10-15 19:44 回复
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