论文标题
解决基因组医学中的祖先差异：一种地理意识算法
Addressing Ancestry Disparities in Genomic Medicine: A Geographic-aware Algorithm
论文作者
论文摘要
随着测序成本下降，癌症诊断：基因组学中出现了一个有希望且负担得起的工具。通过使用关联研究，可以鉴定出使患者易接受特定癌症的基因组变异体，而通过使用肿瘤基因组学癌症类型可以进行靶向治疗。但是，在这个精确的癌症诊断和治疗计划的新领域中，迅速出现了严重的差异，该领域将一些遗传性良好的人群（主要是欧洲）与所有其他全球人群分开。在这里，我们讨论了人群特异性遗传关联的问题，该问题正在推动这种差异，并提出了一种新颖的解决方案 - 基于协调的本地血统 - 有助于解决它。我们证明了我们基于非洲不同群体的整个基因组数据的基于增强的方法，在此过程中，我们可以观察到可能源于洲际班图次膨胀的信号。
With declining sequencing costs a promising and affordable tool is emerging in cancer diagnostics: genomics. By using association studies, genomic variants that predispose patients to specific cancers can be identified, while by using tumor genomics cancer types can be characterized for targeted treatment. However, a severe disparity is rapidly emerging in this new area of precision cancer diagnosis and treatment planning, one which separates a few genetically well-characterized populations (predominantly European) from all other global populations. Here we discuss the problem of population-specific genetic associations, which is driving this disparity, and present a novel solution--coordinate-based local ancestry--for helping to address it. We demonstrate our boosting-based method on whole genome data from divergent groups across Africa and in the process observe signals that may stem from the transcontinental Bantu-expansion.
