Genomic Triangulation in Sudden Unexplained Death in the Young: The Way to Go?

Circulation: Cardiovascular Genetics Pub Date : 2017-10-01 DOI:10.1161/CIRCGENETICS.117.001915

Emil Daniel Bartels, Jacob Tfelt-Hansen, Bo Gregers Winkel

引用次数: 1

Abstract

The use of next-generation sequencing techniques in the exploration of monogenic causes of disease has greatly increased in the recent years, and it is now possible to cover the whole exome with great precision and at low cost within days. The implementation of the next-generation sequencing techniques and target gene panels in clinical laboratories has not only improved the screening for genetic causes in patients with a distinct disease associated phenotype but also opened up for unraveling the causes of sudden unexplained death in the young. In this group, whole-exome sequencing used as molecular autopsy can be a supplement to especially negative or inconclusive autopsies. In several studies, either targeted gene panels focusing on channelopathies or whole-exome sequencing has been used to …

查看原文本刊更多论文

基因组三角测量在年轻人突然不明原因死亡中的应用:未来的路?

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Circulation: Cardiovascular Genetics CARDIAC & CARDIOVASCULAR SYSTEMS-GENETICS & HEREDITY

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Circulation: Genomic and Precision Medicine considers all types of original research articles, including studies conducted in human subjects, laboratory animals, in vitro, and in silico. Articles may include investigations of: clinical genetics as applied to the diagnosis and management of monogenic or oligogenic cardiovascular disorders; the molecular basis of complex cardiovascular disorders, including genome-wide association studies, exome and genome sequencing-based association studies, coding variant association studies, genetic linkage studies, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics; integration of electronic health record data or patient-generated data with any of the aforementioned approaches, including phenome-wide association studies, or with environmental or lifestyle factors; pharmacogenomics; regulation of gene expression; gene therapy and therapeutic genomic editing; systems biology approaches to the diagnosis and management of cardiovascular disorders; novel methods to perform any of the aforementioned studies; and novel applications of precision medicine. Above all, we seek studies with relevance to human cardiovascular biology and disease.