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

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 (...

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Bibliographic Details
Published in:PloS one 2020-08, Vol.15 (8), p.e0237731-e0237731
Main Authors: Huang, Wei-Chih, Huang, Hsin-Tzu, Chen, Po-Yuan, Wang, Wei-Chi, Ko, Tai-Ming, Shrestha, Sirjana, Yang, Chi-Dung, Tai, Chun-San, Chiew, Men-Yee, Chou, Yu-Pao, Hu, Yu-Feng, Huang, Hsien-Da
Format: Article
Language:English
Subjects:
Analysis
Annotations
Bioengineering
Bioinformatics
Biology
Biology and Life Sciences
Biomarkers
Cardiac arrhythmia
Cardiomyopathy
Cardiovascular disease
Cardiovascular diseases
Coronary artery
Coronary artery disease
Data integration
Genetic analysis
Genetic aspects
Genetic diversity
Genetic variance
Genetic variation
Genomes
Health sciences
Heart diseases
Ischemia
Long QT syndrome
Medicine
Medicine and Health Sciences
Myocardial infarction
Next-generation sequencing
Older people
Risk factors
Sudden cardiac death
Supervision
Surveying
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Summary: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
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0237731