原文研究配图:CGM第482期:基于多组学整合的方法对非编码变异进行优先排序

CGM第482期:基于多组学整合的方法对非编码变异进行优先排序

GWAS找到的大量非编码变异,如何进一步定位调控功能和靶基因?报告围绕变异到功能的难题,介绍基因组与表观基因组整合工具,并以肾脏疾病研究说明优先排序的思路。
刘洪波
刘洪波

罗切斯特大学 · 助理教授

博士,Assistant Professor,美国University of Rochester。主要研究方向为衰老和疾病相关的基因组学、表观基因组学和单细胞组学。2015年于哈尔滨工业大学获得博士学位后赴美深造,2018-2024年在宾夕法尼亚大学Susztak教授实验室从事博士后研究。主要学术成果包括:肾脏基因组关联图谱(Liu et al. Science);肾病表观基因组的遗传解析(Liu et al. Nature Genetics 2022);人类组织特异表观遗传标记的系统识别(Liu et al. Nucleic Acids Research 2016)等。目前已在Science、Nature Genetics、Nucleic Acids Research和JASN等高影响力的国内外学术期刊上发表论文70余篇,其中通讯作者和(共同)第一作者SCI论文17篇,总计被引用3000余次(H-index为30)。目前担任功能基因组学杂志《Briefings in Functional Genomics》编委;曾受邀为30余个学术杂志审稿;现为美国遗传学会会员、美国肾脏病学会会员、美国癌症研究学会会员。

尽管全基因组关联研究(GWAS)已识别出大量与复杂疾病相关的DNA序列变异(Variants),但其中超过90%的变异位于基因组的非编码区域,使得解析其调控功能及靶基因成为主要挑战,常被称为“从变异到功能(variant-to-function)”难题,阻碍了复杂疾病致病机制的全面揭示及靶向治疗的开发。在过去十年中,研究人员开发了多种工具研究非编码遗传变异与疾病发生之间的关系。在本次报告,我将与大家分享这些研究工具,尤其是如何通过整合基因组和表观基因组数据系统解析具有调控功能的非编码变异的相关研究。

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