McNally Elizabeth M, George Alfred L
Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL.
Trends Cardiovasc Med. 2015 Oct;25(7):646-52. doi: 10.1016/j.tcm.2015.02.013. Epub 2015 Mar 4.
Cardiovascular medicine has evolved rapidly in the era of genomics with many diseases having primary genetic origins becoming the subject of intense investigation. The resulting avalanche of information on the molecular causes of these disorders has prompted a revolution in our understanding of disease mechanisms and provided new avenues for diagnoses. At the heart of this revolution is the need to correctly classify genetic variants discovered during the course of research or reported from clinical genetic testing. This review will address current concepts related to establishing the cause and effect relationship between genomic variants and heart diseases. A survey of general approaches used for functional annotation of variants will also be presented.
在基因组学时代,心血管医学发展迅速,许多具有原发性遗传起源的疾病成为深入研究的对象。有关这些疾病分子病因的信息如雪崩般涌现,促使我们对疾病机制的理解发生了革命,并为诊断提供了新途径。这场革命的核心是需要正确分类在研究过程中发现或临床基因检测报告的基因变异。本综述将探讨与确立基因组变异和心脏病之间因果关系相关的当前概念。还将介绍用于变异功能注释的一般方法。