SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants

Wei-Chih Huang, Hsin-Tzu Huang, Po-Yuan Chen, Wei-Chi Wang, Tai-Ming Ko, Sirjana Shrestha, Chi-Dung Yang, Chun-San Tai, Men-Yee Chiew, Yu-Pao Chou, Yu-Feng Hu, Hsien-Da Huang

研究成果: Article同行評審

摘要

Sudden cardiac death (SCD) is an important cause of mortality worldwide. It accounts for approximately half of all deaths from cardiovascular disease. While coronary artery disease and acute myocardial infarction account for the majority of SCD in the elderly population, inherited cardiac diseases (inherited CDs) comprise a substantial proportion of younger SCD victims with a significant genetic component. Currently, the use of next-generation sequencing enables the rapid analysis to investigate relationships between genetic variants and inherited CDs causing SCD. Genetic contribution to risk has been considered an alternate predictor of SCD. In the past years, large numbers of SCD susceptibility variants were reported, but these results are scattered in numerous publications. Here, we present the SCD-associated Variants Annotation Database (SVAD) to facilitate the interpretation of variants and to meet the needs of data integration. SVAD contains data from a broad screening of scientific literature. It was constructed to provide a comprehensive collection of genetic variants along with integrated information regarding their effects. At present, SVAD has accumulated 2,292 entries within 1,239 variants by manually surveying pertinent literature, and approximately one-third of the collected variants are pathogenic/likely-pathogenic following the ACMG guidelines. To the best of our knowledge, SVAD is the most comprehensive database that can provide integrated information on the associated variants in various types of inherited CDs. SVAD represents a valuable source of variant information based on scientific literature and benefits clinicians and researchers, and it is now available on.

原文English
文章編號e0237731
頁數14
期刊PLoS ONE
15
發行號8
DOIs
出版狀態Published - 19 八月 2020

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