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CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease

Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary development of molecular technology. However, CHD is a...

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Autores principales: Yang, Lan, Yang, Yang, Liu, Xingyun, Chen, Yongquan, Chen, Yalan, Lin, Yuxin, Sun, Yan, Shen, Bairong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327432/
https://www.ncbi.nlm.nih.gov/pubmed/32608479
http://dx.doi.org/10.1093/database/baaa048
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author Yang, Lan
Yang, Yang
Liu, Xingyun
Chen, Yongquan
Chen, Yalan
Lin, Yuxin
Sun, Yan
Shen, Bairong
author_facet Yang, Lan
Yang, Yang
Liu, Xingyun
Chen, Yongquan
Chen, Yalan
Lin, Yuxin
Sun, Yan
Shen, Bairong
author_sort Yang, Lan
collection PubMed
description Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary development of molecular technology. However, CHD is a heterogeneous disease, and its genetic origins remain inconclusive in most patients. Here we present a database of genetic variations for non-syndromic CHD (NS-CHD). By manually literature extraction and analyses, 5345 NS-CHD-associated genetic variations were collected, curated and stored in the public online database. The objective of our database is to provide the most comprehensive updates on NS-CHD genetic research and to aid systematic analyses of pathogenesis of NS-CHD in molecular level and the correlation between NS-CHD genotypes and phenotypes. Database URL: http://www.sysbio.org.cn/CHDGKB/
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spelling pubmed-73274322020-07-15 CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease Yang, Lan Yang, Yang Liu, Xingyun Chen, Yongquan Chen, Yalan Lin, Yuxin Sun, Yan Shen, Bairong Database (Oxford) Original Article Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary development of molecular technology. However, CHD is a heterogeneous disease, and its genetic origins remain inconclusive in most patients. Here we present a database of genetic variations for non-syndromic CHD (NS-CHD). By manually literature extraction and analyses, 5345 NS-CHD-associated genetic variations were collected, curated and stored in the public online database. The objective of our database is to provide the most comprehensive updates on NS-CHD genetic research and to aid systematic analyses of pathogenesis of NS-CHD in molecular level and the correlation between NS-CHD genotypes and phenotypes. Database URL: http://www.sysbio.org.cn/CHDGKB/ Oxford University Press 2020-07-01 /pmc/articles/PMC7327432/ /pubmed/32608479 http://dx.doi.org/10.1093/database/baaa048 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Yang, Lan
Yang, Yang
Liu, Xingyun
Chen, Yongquan
Chen, Yalan
Lin, Yuxin
Sun, Yan
Shen, Bairong
CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
title CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
title_full CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
title_fullStr CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
title_full_unstemmed CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
title_short CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
title_sort chdgkb: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327432/
https://www.ncbi.nlm.nih.gov/pubmed/32608479
http://dx.doi.org/10.1093/database/baaa048
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