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首页> 外文期刊>Circulation journal >Genetic Variation in Cardiomyopathy and Cardiovascular Disorders
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Genetic Variation in Cardiomyopathy and Cardiovascular Disorders

机译：心肌病和心血管疾病的遗传变异

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With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.
机译：随着大规模并行的下一代测序技术的广泛部署，现在有可能为了研究和临床目的而对人类基因组数据进行调查。生产短读测序的成本降低了，现在已经将负担转移到了数据分析上。基因组测序的分析仍然面临着人类基因组复杂性的挑战，包括冗余和基因组元素的重复性以及单个基因组的大量变异。尽管将数据库序列信息链接到详细的临床信息受到隐私和实际问题的限制，但人类基因组序列的公共数据库极大地促进了常见和稀有遗传变异的解释。遗传变异是心血管疾病的丰富知识来源，因为许多（即使不是全部）心血管疾病都是高度遗传的。对于肥厚性和扩张型心肌病，罕见的遗传变异在预测心血管疾病的风险和并发症中的作用已得到公认，其中与这些疾病相关的基因数量正在增长。在家庭数据的支持下，遗传变异与疾病分离，罕见的变异可以与提供深刻诊断信息的特定遗传变异联系起来。了解心肌病的遗传变异可能有助于分层心力衰竭的形式并指导治疗。最终，遗传变异可能适合基因校正和基因编辑策略。

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