Interpreting the functional impact of genetic variants: The need for context qualifiers

解读基因变异的功能影响:需要上下文限定词

阅读:1

Abstract

Genetic alterations influence biological function through a variety of molecular mechanisms. While common functional descriptions (such as loss of function and gain of function) are useful, they may fail to capture mechanistic complexity, particularly in cases of pleiotropy and context-dependent variant effects. To improve variant interpretation and classification, we propose a framework incorporating "context qualifiers" to address mechanistic specificity. This perspective explores the limitations of common functional descriptors and discusses the criteria needed to implement context qualifiers in variant interpretation frameworks to enhance precision medicine applications.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。