在利益相关者的多元生态系统中对基因组命名的标准化:演变和挑战
Laura K Conlin1,2, Melissa J Landrum3, Robert R Freimuth4
1Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Clinical chemistry
|January 3, 2025
概括
由于新技术,分子遗传学和细胞遗传学等遗传测试领域正在融合. 本综述探讨了基因组命名法和临床遗传学利益相关者面临的挑战.
科学领域:
- 基因组医学是基因组医学.
- 临床遗传学 临床遗传学
背景情况:
- 从历史上看,遗传测试被分为分子遗传学 (小变体) 和细胞遗传学 (大变体).
- 这种划分是由测试限制和检测到的变异类型驱动的.
- 下一代测序模糊了这些传统的界限,使得这两个领域的全基因组分析成为可能.
研究的目的:
- 在分子遗传学和细胞遗传学中审查基因组命名的历史.
- 总结临床遗传学社区面临的实施挑战.
- 确定将使用遗传变异描述的利益相关者联系起来的主要考虑因素.
主要方法:
- 基因组命名法历史的文献综述.
- 分析临床遗传学的实施挑战.
- 确定利益相关者对遗传变异信息的需求.
主要成果:
- 分子遗传学和细胞遗传学的历史分离正在变得过时.
- 在实施标准化基因组命名体系方面存在重大挑战.
- 连接不同的利益相关者需要对变异描述采取统一的方法.
结论:
- 遗传变异描述的标准化是复杂的,需要达成共识.
- 适应所有变体类型和利益相关者的需求的单一标准是一个雄心勃勃的目标.
- 重新审视统一基因组命名规范的愿景是必要的.
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