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创始人变异体和群体基因组——迈向精准医学。

Founder variants and population genomes-Toward precision medicine.

机构信息

CSIR-Institute of Genomics and Integrative Biology, New Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India.

CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.

出版信息

Adv Genet. 2021;107:121-152. doi: 10.1016/bs.adgen.2020.11.004. Epub 2021 Feb 18.

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.

摘要

人类迁移和特定社区的文化习俗导致了与遗传疾病相关的变异的创始事件和丰富。虽然许多孤立人群中的创始事件仍未被描述,但基因组学在临床环境中的应用以及近年来的人口规模研究为鉴定与人类健康和疾病相关的创始变体提供了前所未有的推动力。创始变体的发现和特征不仅可以深入了解疾病的历史或谱系,而且可以实施基于证据的政策和遗传测试框架。这进一步实现了精确诊断和预防,以实现精准医学。本综述提供了对创始变体的概述以及对它们进行分类的方法和资源。我们还讨论了与特定人群中常见疾病相关的创始变体的公共卫生意义和示例。

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