The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
The European Genome-phenome Archive of human data consented for biomedical research
Open accessAbstract
Paul Flicek and colleagues provide an update on the European Genome-phenome Archive (EGA), a service of the European Bioinformatics Institute (EMBL-EBI) and the Center for Genome Regulation (CRG). The authors describe the EGA policies and infrastructure, how access decisions are made, methods for data submission and future plans for expansion of this database. The European Genome-phenome Archive (EGA) is a permanent archive that promotes the distribution and sharing of genetic and phenotypic data consented for specific approved uses but not fully open, public distribution. The EGA follows strict protocols for information management, data storage, security and dissemination. Authorized access to the data is managed in partnership with the data-providing organizations. The EGA includes major reference data collections for human genetics research.
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Citations
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707
Self-citationThe Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,684
International network of cancer genome projects
The International Cancer Genome Consortium (2010) · Nature · doi:10.1038/nature08987 · Cited by 2,299
The Proteomics Identifications (PRIDE) database and associated tools: status in 2013
Vizcaíno, J. A., Côté, R. G., Csordas, A., Dianes, J. A., Fabregat, A., Foster, J. M., Griss, J., Alpi, E., Birim, M., Contell, J., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1262 · Cited by 1,918
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
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ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas
Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1008433 · Cited by 1,712
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Self-citationThe NCBI dbGaP database of genotypes and phenotypes
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Self-citation
Cited by
A One-Penny Imputed Genome from Next-Generation Reference Panels
Browning, B. L., Zhou, Y., & Browning, S. R. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.07.015 · Cited by 2,092
Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution
The TRACERx consortium, Abbosh, C., The PEACE consortium, Birkbak, N. J., Wilson, G. A., Jamal-Hanjani, M., Constantin, T., Salari, R., Le Quesne, J., Moore, D. A., et al. (2017) · Nature · doi:10.1038/nature22364 · Cited by 1,874
Deep learning in cancer diagnosis, prognosis and treatment selection
Tran, K. A., Kondrashova, O., Bradley, A., Williams, E. D., Pearson, J. V., & Waddell, N. (2021) · Genome Medicine · doi:10.1186/s13073-021-00968-x · Cited by 932
Applications of multi‐omics analysis in human diseases
Chen, C., Wang, J., Pan, D., Wang, X., Xu, Y., Yan, J., Wang, L., Yang, X., Yang, M., & Liu, G. (2023) · MedComm · doi:10.1002/mco2.315 · Cited by 545
Makohon-Moore, A. P., Zhang, M., Reiter, J. G., Bozic, I., Allen, B., Kundu, D., Chatterjee, K., Wong, F., Jiao, Y., Kohutek, Z. A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3764 · Cited by 403
Metadata
- Authors
- Lappalainen, I., Almeida-King, J., Kumanduri, V., Senf, A., Spalding, J. D., ur-Rehman, S., Saunders, G., Kandasamy, J., Caccamo, M., Leinonen, R., Vaughan, B., Laurent, T., Rowland, F., Marin-Garcia, P., Barker, J., Jokinen, P., Torres, A. C., de Argila, J. R., Llobet, O. M., Medina, I., Puy, M. S., Alberich, M., de la Torre, S., Navarro, A., Paschall, J., & Flicek, P.
- Venue
- Nature Genetics
- Published
- 2015-06-26
- Volume
- 47
- Issue
- 7
- Pages
- 692-695
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1567333450
- Cited by
- 354
- References
- 25
- FWCI
- 82.89
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Lappalainen, I., Almeida-King, J., Kumanduri, V., Senf, A., Spalding, J. D., ur-Rehman, S., Saunders, G., Kandasamy, J., Caccamo, M., Leinonen, R., Vaughan, B., Laurent, T., Rowland, F., Marin-Garcia, P., Barker, J., Jokinen, P., Torres, A. C., de Argila, J. R., Llobet, O. M., . . . Flicek, P. (2015). The European Genome-phenome Archive of human data consented for biomedical research. Nature Genetics. https://doi.org/10.1038/ng.3312
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
