Advancing discovery of risk-altering variants for complex diseases by functionally informed fine-mapping.
Advancing discovery of risk-altering variants for complex diseases by functionally informed fine-mapping.
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通过功能知情的精细绘图，推进复杂疾病风险改变变异的发现。
DOI：
10.1016/j.neuron.2022.02.018
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发表时间：
2022
期刊：
影响因子：
16.2
通讯作者：
Yu,Haiyuan
中科院分区：
文献类型：
--
作者：
Chen,You;Clark,AndrewG;Yu,Haiyuan
精确定位全基因组关联研究(GWAS)确定的风险基因座上的因果变异是一个巨大的挑战。在本期《神经元》杂志上，张等人。提出了一种精细作图方法，RefMap，将功能基因组学与GWAS汇总统计相结合，以优先处理肌萎缩侧索硬化症的因果变异。
Pinpointing causal variants at risk loci identified by genome-wide association studies (GWAS) has been a great challenge. In this issue ofNeuron, Zhang et al. present a fine-mapping approach, RefMap, integrating functional genomics with GWAS summary statistics to prioritize causal variants for amyotrophic lateral sclerosis.