Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Nucleic Acids Research

Volumn 42, Issue D1, 2014, Pages

  Papadopoulos, Petros ^a,e   Viennas, Emmanouil ^b   Gkantouna, Vassiliki ^b   Pavlidis, Cristiana ^a   Bartsakoulia, Marina ^a   Ioannou, Zafeiria Marina ^b   Ratbi, Ilham ^c   Sefiani, Abdelaziz ^c   Tsaknakis, John ^d   Poulas, Konstantinos ^a   Tzimas, Giannis ^d   Patrinos, George P ^a  

^a UNIVERSITY OF PATRAS   (Greece)

^b UNIVERSITY OF PATRAS   (Greece)

^c MOHAMMED V UNIVERSITY   (Morocco)

^d Technological Educational Institute of Western Greece   (Greece)

^e UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPUTER AIDED DESIGN; COMPUTER INTERFACE; COMPUTER NETWORK; COMPUTER PROGRAM; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; INFORMATION PROCESSING; INTERNET; PRIORITY JOURNAL; WEB BROWSER; CONTROLLED STUDY; ETHNIC GROUP; FINDBASE DATABASE; GENE MUTATION; GENETIC HETEROGENEITY; GEOGRAPHIC DISTRIBUTION; PHARMACOGENOMICS; GENETIC MARKER; GENETICS; HUMAN; HUMAN GENOME; MUTATION; NUCLEIC ACID DATABASE; PHARMACOGENETICS;

GENETIC MARKER;

DATABASES, NUCLEIC ACID; GENE FREQUENCY; GENETIC DISEASES, INBORN; GENETIC MARKERS; GENOME, HUMAN; HUMANS; INTERNET; MUTATION; PHARMACOGENETICS;

EID: 84891810471     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkt1125     Document Type: Article

References (18)

1. Patrinos, G.P. (2006) National and ethnic mutation databases: documenting populations' genography. Hum. Mutat., 27, 879-887.
2. van Baal, S., Kaimakis, P., Phommarinh, M., Koumbi, D., Cuppens, H., Riccardino, F., Macek, M. Jr, Scriver, C.R. and Patrinos, G.P. (2007) FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res., 35, D690-D695.
3. Georgitsi, M., Viennas, E., Gkantouna, V., van Baal, S., Petricoin, E.F., Poulas, K., Tzimas, G. and Patrinos, G.P. (2011) FINDbase: a worldwide database for genetic variation allele frequencies updated. Nucleic Acids Res., 39, D926-D932.
4. Bobadilla, J.L., Macek, M. Jr, Fine, J.P. and Farrell, P.M. (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum. Mutat., 19, 575-606.
5. Scriver, C.R., Waters, P.J., Sarkissian, C., Ryan, S., Prevost, L., Cote, D., Novak, J., Teebi, S. and Nowacki, P.M. (2000) PAHdb: a locus-specific knowledgebase. Hum. Mutat., 15, 99-104.
6. Zaimidou, S., van Baal, S., Smith, T.D., Mitropoulos, K., Ljujic, M., Radojkovic, D., Cotton, R.G. and Patrinos, G.P. (2009) A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency. Hum. Mutat., 30, 308-313.
7. Patrinos, G.P., Giardine, B., Riemer, C., Miller, W., Chui, D.H., Anagnou, N.P., Wajcman, H. and Hardison, R.C. (2004) Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res., 32, D537-D541.
8. Giardine, B., Borg, J., Higgs, D.R., Peterson, K.R., Philipsen, S., Maglott, D., Singleton, B.K., Anstee, D.J., Basak, A.N., Clark, B. et al. (2011) Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat. Genet., 43, 295-301.
9. Patrinos, G.P., Cooper, D.N., van Mulligen, E., Gkantouna, V., Tzimas, G., Tatum, Z., Schultes, E., Roos, M. and Mons, B. (2012) Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Hum. Mutat., 33, 1503-1512.
10. Viennas, E., Gkantouna, V., Ioannou, M., Georgitsi, M., Rigou, M., Poulas, K., Patrinos, G.P. and Tzimas, G. (2012) Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey. Genomics, 100, 93-101.
11. Zlotogora, J., van Baal, S. and Patrinos, G.P. (2007) Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database. Hum. Mutat., 28, 944-949.
12. van Baal, S., Zlotogora, J., Lagoumintzis, G., Gkantouna, V., Tzimas, I., Poulas, K., Tsakalidis, A., Romeo, G. and Patrinos, G.P. (2010) ETHNOS: a versatile electronic tool for the development and curation of National Genetic databases. Hum. Genomics, 4, 361-368.
13. Bell, M. (2010) SOA Modeling Patterns for Service-Oriented Discovery and Analysis. Wiley & Sons, Chichester, United Kingdom.
14. nd IEEE International Conference on Computer Science and Information Technology, ICCSIT'09, Beijing, China, 34-38.
15. Patrinos, G.P., van Baal, S., Petersen, M.B. and Papadakis, M.N. (2005) The Hellenic national mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population. Hum. Mutat., 25, 327-333.
16. Stenson, P.D., Mort, M., Ball, E.V., Howells, K., Phillips, A.D., Thomas, N.S. and Cooper, D.N. (2009) The Human Gene Mutation Database: 2008 update. Genome Med., 1, 13.
17. Nolan, D., Gaudieri, S. and Mallal, S. (2003) Pharmacogenetics: a practical role in predicting antiretroviral drug toxicity? J. HIV. Ther., 8, 36-41.
18. Patrinos, G.P., Al Aama, J., Al Aqeel, A., Al-Mulla, F., Borg, J., Devereux, A., Felice, A.E., Macrae, F., Marafie, M.J., Petersen, M.B. et al. (2011) Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum. Mutat., 32, 2-9.