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SVAD:一个基因数据库,用于整理与非缺血性心源性猝死相关的变异。

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

机构信息

Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan, R.O.C.

Institute of Bioinformatics and Systems Biology, National Chiao Tung University, Hsinchu, Taiwan, R.O.C.

出版信息

PLoS One. 2020 Aug 19;15(8):e0237731. doi: 10.1371/journal.pone.0237731. eCollection 2020.

DOI:10.1371/journal.pone.0237731
PMID:32813752
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7437891/
Abstract

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 http://svad.mbc.nctu.edu.tw/.

摘要

心脏性猝死 (SCD) 是全球范围内一个重要的死亡原因。它约占心血管疾病死亡人数的一半。虽然冠状动脉疾病和急性心肌梗死是老年人 SCD 的主要原因,但遗传性心脏病 (遗传性 CDs) 在年轻的 SCD 患者中占有相当大的比例,并且具有重要的遗传成分。目前,下一代测序的使用可以快速分析遗传变异与导致 SCD 的遗传性 CDs 之间的关系。遗传因素被认为是 SCD 的另一个预测因素。在过去的几年中,已经报道了大量的 SCD 易感性变异,但这些结果分散在大量的出版物中。在这里,我们提出了 SCD 相关变异注释数据库 (SVAD),以方便变异的解释,并满足数据集成的需求。SVAD 包含广泛筛选科学文献的数据。它的构建是为了提供遗传变异的综合收集,并提供有关其影响的综合信息。目前,SVAD 通过手动调查相关文献,已经积累了 2292 个条目,涉及 1239 个变体,其中大约三分之一的变体是根据 ACMG 指南致病性/可能致病性的。据我们所知,SVAD 是最全面的数据库,可以提供各种遗传性 CDs 相关变体的综合信息。SVAD 是基于科学文献的变异信息的宝贵来源,对临床医生和研究人员都有好处,现在可以在 http://svad.mbc.nctu.edu.tw/ 上获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/bca073b478eb/pone.0237731.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/3288386e4dcd/pone.0237731.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/a86caaa17032/pone.0237731.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/bca073b478eb/pone.0237731.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/3288386e4dcd/pone.0237731.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/a86caaa17032/pone.0237731.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9118/7437891/bca073b478eb/pone.0237731.g003.jpg

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本文引用的文献

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Europace. 2020 Jun 1;22(6):964-971. doi: 10.1093/europace/euaa056.
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