鉴定错误地被归类为与癌症相关的体质变异的生殖系变异
Rebecca D Pollard1,2, Matthew D Wilkerson3,4, Padma Sheila Rajagopal5,6
1Maret School, Washington, DC, United States.
Frontiers in medicine
|April 4, 2024
概括
在瘤学中的遗传数据库经常显示祖先偏见. 这项研究通过将癌症突变数据与人口变异数据库进行比较,确定了成千上万种错误分类的癌症变异,特别是在非洲人群中.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 生物信息学是一种生物信息学.
背景情况:
- 临床瘤学数据库主要使用来自欧洲祖先的遗传数据,在癌症研究和患者护理方面产生了重大偏见.
- 一个关键问题是错误地将多祖先种群变异作为与瘤相关的,因为它们不在参考基因组中.
研究的目的:
- 通过将癌症基因突变数据与人口变异数据进行比较,系统地识别错误分类的变异.
- 在瘤测序数据的解释中减少与祖先相关的偏见.
主要方法:
- 来自癌症体突变目录 (COSMIC) 的癌症普查基因的体变异与基因组聚合数据库 (GnomAD) 的种群变异进行了比较.
- 分析了基因组坐标,参考和替代基因组来检测错误分类的变异.
主要成果:
- 发现92.31%的COSMIC癌症相关人口普查基因具有相关的变异错误分类.
- 在COSMIC中确定了6,957个 (0.36%) 变体,这些变体与GnomAD的正常人口变体保持一致.
- 非洲/非洲裔美国人的祖先人口表现出最多的错误分类和唯一的错误分类变体.
结论:
- 系统地比较COSMIC和GnomAD之间的变体,有助于准确地解释瘤测序数据.
- 这种方法有助于减轻癌症遗传学中基因组祖先引起的偏见.
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