期刊
NUCLEIC ACIDS RESEARCH
卷 42, 期 D1, 页码 D986-D992出版社
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkt958
关键词
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资金
- University of Toronto McLaughlin Centre
- Ontario Genomics Institute/Genome Canada
- Canada Foundation for Innovation
- Canadian Institutes of Health Research (CIHR)
- The Centre for Applied Genomics
- GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of Toronto
- Hospital for Sick Children
- Genome Canada Grant
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.
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