The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
dbVar and DGVa: public archives for genomic structural variation
Open accessAbstract
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.
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Citations
Cites
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Genome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630 · cited 1×
“The discovery and characterization of GSV is challenging for a number of reasons (5).”
BackgroundMapping copy number variation by population-scale genome sequencing
1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature · doi:10.1038/nature09708 · Cited by 1,140
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822c79f9 · Cited by 437
Self-citation
Cited by
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
Kim, D., Paggi, J. M., Park, C., Bennett, C., & Salzberg, S. L. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0201-4 · Cited by 15,022
The Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099
Self-citationClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516
Self-citationClinVar: public archive of interpretations of clinically relevant variants
Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1222 · Cited by 2,758
Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., et al. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkad1049 · Cited by 742
Metadata
- Authors
- Lappalainen, I., Lopez, J., Skipper, L., Hefferon, T., Spalding, J. D., Garner, J., Chen, C., Maguire, M., Corbett, M., Zhou, G., Paschall, J., Ananiev, V., Flicek, P., & Church, D. M.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-11-26
- Volume
- 41
- Issue
- D1
- Pages
- D936-D941
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2160344363
- Cited by
- 308
- References
- 4
- FWCI
- 7.44
- Type
- journal article
- Language
- en
- Open access
- gold
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- CoChat. (2026). Citation check: dbVar and DGVa: public archives for genomic structural variation. https://app.cochat.ai/papers/10.1093/nar/gks1213
- The paper
- Lappalainen, I., Lopez, J., Skipper, L., Hefferon, T., Spalding, J. D., Garner, J., Chen, C., Maguire, M., Corbett, M., Zhou, G., Paschall, J., Ananiev, V., Flicek, P., & Church, D. M. (2012). dbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Research. https://doi.org/10.1093/nar/gks1213
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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