dbVar and DGVa: public archives for genomic structural variation

被引:193
作者
Lappalainen, Ilkka [2 ]
Lopez, John [1 ]
Skipper, Lisa [2 ]
Hefferon, Timothy [1 ]
Spalding, J. Dylan [2 ]
Garner, John [1 ]
Chen, Chao [1 ]
Maguire, Michael [2 ]
Corbett, Matt [2 ]
Zhou, George [1 ]
Paschall, Justin [2 ]
Ananiev, Victor [1 ]
Flicek, Paul [2 ]
Church, Deanna M. [1 ]
机构
[1] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA
[2] European Bioinformat Inst, Hinxton CB10 1SD, Cambs, England
基金
英国惠康基金; 美国国家卫生研究院;
关键词
COPY NUMBER VARIATION; VARIANTS;
D O I
10.1093/nar/gks1213
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Much has changed in the last two years at DGVa (http://www.ebi.ac.uk/dgva) and dbVar (http://www.ncbi.nlm.nih.gov/dbvar). We are now processing direct submissions rather than only curating data from the literature and our joint study catalog includes data from over 100 studies in 11 organisms. Studies from human dominate with data from control and case populations, tumor samples as well as three large curated studies derived from multiple sources. During the processing of these data, we have made improvements to our data model, submission process and data representation. Additionally, we have made significant improvements in providing access to these data via web and FTP interfaces.
引用
收藏
页码:D936 / D941
页数:6
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