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The Database of Genomic Variants: a curated collection of structural variation in the human genome
Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features, which...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965079/ https://www.ncbi.nlm.nih.gov/pubmed/24174537 http://dx.doi.org/10.1093/nar/gkt958 |
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author | MacDonald, Jeffrey R. Ziman, Robert Yuen, Ryan K. C. Feuk, Lars Scherer, Stephen W. |
author_facet | MacDonald, Jeffrey R. Ziman, Robert Yuen, Ryan K. C. Feuk, Lars Scherer, Stephen W. |
author_sort | MacDonald, Jeffrey R. |
collection | PubMed |
description | Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features, which have expanded the utility of DGV for both the basic research and clinical diagnostic communities. The current version of DGV consists of 55 published studies, comprising >2.5 million entries identified in >22 300 genomes. Studies included in DGV are selected from the accessioned data sets in the archival SV databases dbVar (NCBI) and DGVa (EBI), and then further curated for accuracy and validity. The core visualization tool (gbrowse) has been upgraded with additional functions to facilitate data analysis and comparison, and a new query tool has been developed to provide flexible and interactive access to the data. The content from DGV is regularly incorporated into other large-scale genome reference databases and represents a standard data resource for new product and database development, in particular for copy number variation testing in clinical labs. The accurate cataloguing of variants in DGV will continue to enable medical genetics and genome sequencing research. |
format | Online Article Text |
id | pubmed-3965079 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-39650792014-03-25 The Database of Genomic Variants: a curated collection of structural variation in the human genome MacDonald, Jeffrey R. Ziman, Robert Yuen, Ryan K. C. Feuk, Lars Scherer, Stephen W. Nucleic Acids Res VI. Genomic variation, diseases and drugs Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features, which have expanded the utility of DGV for both the basic research and clinical diagnostic communities. The current version of DGV consists of 55 published studies, comprising >2.5 million entries identified in >22 300 genomes. Studies included in DGV are selected from the accessioned data sets in the archival SV databases dbVar (NCBI) and DGVa (EBI), and then further curated for accuracy and validity. The core visualization tool (gbrowse) has been upgraded with additional functions to facilitate data analysis and comparison, and a new query tool has been developed to provide flexible and interactive access to the data. The content from DGV is regularly incorporated into other large-scale genome reference databases and represents a standard data resource for new product and database development, in particular for copy number variation testing in clinical labs. The accurate cataloguing of variants in DGV will continue to enable medical genetics and genome sequencing research. Oxford University Press 2014-01-01 2013-10-29 /pmc/articles/PMC3965079/ /pubmed/24174537 http://dx.doi.org/10.1093/nar/gkt958 Text en © The Author(s) 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by/3.0/), which permits non-commercial reuse, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | VI. Genomic variation, diseases and drugs MacDonald, Jeffrey R. Ziman, Robert Yuen, Ryan K. C. Feuk, Lars Scherer, Stephen W. The Database of Genomic Variants: a curated collection of structural variation in the human genome |
title | The Database of Genomic Variants: a curated collection of structural variation in the human genome |
title_full | The Database of Genomic Variants: a curated collection of structural variation in the human genome |
title_fullStr | The Database of Genomic Variants: a curated collection of structural variation in the human genome |
title_full_unstemmed | The Database of Genomic Variants: a curated collection of structural variation in the human genome |
title_short | The Database of Genomic Variants: a curated collection of structural variation in the human genome |
title_sort | database of genomic variants: a curated collection of structural variation in the human genome |
topic | VI. Genomic variation, diseases and drugs |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965079/ https://www.ncbi.nlm.nih.gov/pubmed/24174537 http://dx.doi.org/10.1093/nar/gkt958 |
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