Founder variants and population genomes-Toward precision medicine.

4区生物学 Q2 Biochemistry, Genetics and Molecular Biology

Advances in Genetics Pub Date : 2021-01-01 Epub Date: 2021-02-18 DOI:10.1016/bs.adgen.2020.11.004

Abhinav Jain, Disha Sharma, Anjali Bajaj, Vishu Gupta, Vinod Scaria

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引用次数: 0

Abstract

Human migration and community specific cultural practices have contributed to founder events and enrichment of the variants associated with genetic diseases. While many founder events in isolated populations have remained uncharacterized, the application of genomics in clinical settings as well as for population scale studies in the recent years have provided an unprecedented push towards identification of founder variants associated with human health and disease. The discovery and characterization of founder variants could have far reaching implications not only in understanding the history or genealogy of the disease, but also in implementing evidence based policies and genetic testing frameworks. This further enables precise diagnosis and prevention in an attempt towards precision medicine. This review provides an overview of founder variants along with methods and resources cataloging them. We have also discussed the public health implications and examples of prevalent disease associated founder variants in specific populations.

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创始人变异和群体基因组——走向精准医疗。

人类迁徙和社区特定的文化习俗促成了创始者事件，丰富了与遗传疾病相关的变异。虽然孤立人群中的许多创始事件仍未被描述，但近年来基因组学在临床环境中的应用以及群体规模研究为鉴定与人类健康和疾病相关的创始变异提供了前所未有的推动力。始祖变异的发现和特征不仅对了解该病的历史或谱系，而且对实施基于证据的政策和基因检测框架具有深远的影响。这进一步使精确诊断和预防成为可能，以实现精准医疗。这篇综述提供了方正变体的概述，以及对它们进行编目的方法和资源。我们还讨论了特定人群中与流行疾病相关的始祖变异的公共卫生影响和例子。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Advances in Genetics 生物-遗传学

CiteScore

5.70

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.