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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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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/ |
format | Online Article Text |
id | pubmed-7327432 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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