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Analysis of selected genes associated with cardiomyopathy by next‐generation sequencing

机译:通过下一代测序分析与心肌病相关的选定基因

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摘要

As the leading cause of congestive heart failure, cardiomyopathy represents a heterogenous group of heart muscle disorders. Despite considerable progress being made in the genetic diagnosis of cardiomyopathy by detection of the mutations in the most prevalent cardiomyopathy genes, the cause remains unsolved in many patients. High‐throughput mutation screening in the disease genes for cardiomyopathy is now possible because of using target enrichment followed by next‐generation sequencing. The aim of the study was to analyze a panel of genes associated with dilated or hypertrophic cardiomyopathy based on previously published results in order to identify the subjects at risk.
机译:作为充血性心力衰竭的主要原因,心肌病代表了一组异质性的心肌疾病。尽管通过检测最普遍的心肌病基因中的突变在心肌病的基因诊断中取得了巨大进展,但许多患者仍未解决该病因。由于使用靶标富集后再进行下一代测序,现在可以对心肌病的疾病基因进行高通量突变筛选。该研究的目的是根据先前发表的结果分析一组与扩张型或肥厚型心肌病相关的基因,以鉴定有风险的受试者。

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