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From variant to function in human disease genetics
Science ( IF 56.9 ) Pub Date : 2021-09-24 , DOI: 10.1126/science.abi8207
Tuuli Lappalainen 1, 2 , Daniel G MacArthur 3, 4, 5
Affiliation  

Over the next decade, the primary challenge in human genetics will be to understand the biological mechanisms by which genetic variants influence phenotypes, including disease risk. Although the scale of this challenge is daunting, better methods for functional variant interpretation will have transformative consequences for disease diagnosis, risk prediction, and the development of new therapies. An array of new methods for characterizing variant impact at scale, using patient tissue samples as well as in vitro models, are already being applied to dissect variant mechanisms across a range of human cell types and environments. These approaches are also increasingly being deployed in clinical settings. We discuss the rationale, approaches, applications, and future outlook for characterizing the molecular and cellular effects of genetic variants.

中文翻译:

从变异到人类疾病遗传学中的功能

在接下来的十年中,人类遗传学的主要挑战将是了解遗传变异影响表型(包括疾病风险)的生物学机制。尽管这一挑战的规模令人生畏,但更好的功能变异解释方法将对疾病诊断、风险预测和新疗法的开发产生变革性的影响。一系列用于大规模表征变异影响的新方法,使用患者组织样本以及体外模型,已经被应用于剖析一系列人类细胞类型和环境中的变异机制。这些方法也越来越多地应用于临床环境。我们讨论了表征遗传变异的分子和细胞效应的基本原理、方法、应用和未来前景。
更新日期:2021-09-24
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