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Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-09-24 , DOI: 10.1002/mgg3.1504
Alessandra Carnevale 1 , Sandra Rosas-Madrigal 1 , Rigoberto Rosendo-Gutiérrez 1 , Enrique López-Mora 2 , Sandra Romero-Hidalgo 1 , Nydia Avila-Vazzini 2 , Leonor Jacobo-Albavera 1 , Mayra Domínguez-Pérez 1 , Gilberto Vargas-Alarcón 2 , Fernando Pérez-Villatoro 1 , Juana Inés Navarrete-Martínez 3 , María Teresa Villarreal-Molina 1
Affiliation  

Dilated cardiomyopathy (DCM) is a major cause of nonischemic heart failure and death in young adults. Next generation sequencing (NGS) has become part of the diagnostic workup in idiopathic and familial DCM. More than 50 DCM genes have been identified, revealing great molecular heterogeneity and variable diagnostic yield. Interpretation of variant pathogenicity is challenging particularly in underrepresented populations, as pathogenic variant databases include studies mainly from European/Caucasian populations. To date, no studies on genomic diagnosis of DCM have been conducted in Mexico.

中文翻译:

使用定点下一代测序技术对一组墨西哥患者的扩张型心肌病进行基因组研究。

扩张型心肌病(DCM)是年轻人非缺血性心力衰竭和死亡的主要原因。下一代测序(NGS)已成为特发性和家族性DCM诊断检查的一部分。已鉴定出50多个DCM基因,显示出巨大的分子异质性和可变的诊断产量。变异致病性的解释尤其是在代表性不足的人群中具有挑战性,因为致病变异数据库包括主要来自欧洲/高加索人群的研究。迄今为止,在墨西哥尚未进行关于DCM的基因组诊断的研究。
更新日期:2020-11-16
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