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马参考基因组发布12年后的遗传学、基因组学与新兴精准医学

Genetics, Genomics, and Emergent Precision Medicine 12 Years After the Equine Reference Genome Was Published.

作者信息

MacLeod James N, Kalbfleisch Theodore S

机构信息

Department of Veterinary Science, Gluck Equine Research Center, University of Kentucky, Lexington, KY 40546-0099, USA.

Department of Veterinary Science, Gluck Equine Research Center, University of Kentucky, Lexington, KY 40546-0099, USA.

出版信息

Vet Clin North Am Equine Pract. 2020 Aug;36(2):173-181. doi: 10.1016/j.cveq.2020.04.002.

DOI:10.1016/j.cveq.2020.04.002
PMID:32654780
Abstract

The first equine reference genome was completed in 2007 and published in 2009. This major accomplishment has enabled equine science to advance in ways that broadly parallel the transformative impact that genomics has had on many animal species including humans. A conceptual overview of reference genomes, genome annotation, and the major implications for equine science is presented. The relationship between genomic sequencing and the accelerating application of precision P4 medicine is discussed in the context of human and equine patients. Emergent technologies built on the foundation of genomic sequencing and rapidly gaining traction in research and clinical settings are introduced.

摘要

首个马参考基因组于2007年完成,并于2009年发表。这一重大成果使马科学得以在广泛平行于基因组学对包括人类在内的许多动物物种所产生的变革性影响的方向上取得进展。本文概述了参考基因组、基因组注释以及对马科学的主要影响。在人类和马类患者的背景下,讨论了基因组测序与精准P4医学加速应用之间的关系。还介绍了基于基因组测序基础并在研究和临床环境中迅速获得关注的新兴技术。

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