CHDbase: A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations

被引：7

作者：

Zhou, Wei-Zhen ^{[1
]}

Li, Wenke ^{[1
]}

Shen, Huayan ^{[1
]}

Wang, Ruby W.

Chen, Wen ^{[1
,2
]}

Zhang, Yujing ^{[1
]}

Zeng, Qingyi ^{[1
]}

Wang, Hao ^{[1
]}

Yuan, Meng ^{[1
]}

Zeng, Ziyi ^{[1
]}

Cui, Jinhui ^{[1
]}

Li, Chuan-Yun ^{[3
]}

Ye, Fred Y. ^{[2
]}

Zhou, Zhou ^{[1
]}

机构：

[1] Chinese Acad Med Sci & Peking Union Med Coll, Natl Ctr Cardiovasc Dis, Ctr Lab Med, State Key Lab Cardiovasc Dis,Beijing Key Lab Mol D, Beijing 100037, Peoples R China

[2] Nanjing Univ, Sch Informat Management, Int Joint Informat Lab & Jiangsu Key Lab Data Engn, Nanjing 210023, Peoples R China

[3] Peking Univ, Inst Mol Med, Beijing 100871, Peoples R China

来源：

GENOMICS PROTEOMICS & BIOINFORMATICS | 2023年 / 21卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Congenital heart disease; Congenital heart defect; Database; Genetics; Classification; VARIANTS; GENETICS; ASSOCIATION; PREVALENCE; EXPRESSION; GUIDELINES; DATABASES; DEFECTS;

D O I：

10.1016/j.gpb.2022.08.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital heart disease (CHD) is one of the most common causes of major birth defects, with a prevalence of 1%. Although an increasing number of studies have reported the etiology of CHD, the findings scattered throughout the literature are difficult to retrieve and utilize in research and clinical practice. We therefore developed CHDbase, an evidence-based knowledgebase of CHD-related genes and clinical manifestations manually curated from 1114 publications, linking 1124 susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes. Metadata such as the information of each publication and the selected population and samples, the strategy of studies, and the major findings of studies were integrated with each item of the research record. We also integrated functional annotations through parsing -50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity. We further prioritized the significance of these CHD-related genes with a gene interaction network approach and extracted a core CHD sub-network with 163 genes. The clear genetic landscape of CHD enables the phenotype classification based on the shared genetic origin. Overall, CHDbase provides a comprehensive and freely available resource to study CHD susceptibilities, supporting a wide range of users in the sci-entific and medical communities. CHDbase is accessible at http://chddb.fwgenetics.org.

引用

页码：216 / 227

页数：12