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FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

Frequency of INherited Disorders database (FINDbase) () is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene,...

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Autores principales: van Baal, Sjozef, Kaimakis, Polynikis, Phommarinh, Manyphong, Koumbi, Daphne, Cuppens, Harry, Riccardino, Francesca, Macek, Milan, Scriver, Charles R., Patrinos, George P.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1747180/
https://www.ncbi.nlm.nih.gov/pubmed/17135191
http://dx.doi.org/10.1093/nar/gkl934
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author van Baal, Sjozef
Kaimakis, Polynikis
Phommarinh, Manyphong
Koumbi, Daphne
Cuppens, Harry
Riccardino, Francesca
Macek, Milan
Scriver, Charles R.
Patrinos, George P.
author_facet van Baal, Sjozef
Kaimakis, Polynikis
Phommarinh, Manyphong
Koumbi, Daphne
Cuppens, Harry
Riccardino, Francesca
Macek, Milan
Scriver, Charles R.
Patrinos, George P.
author_sort van Baal, Sjozef
collection PubMed
description Frequency of INherited Disorders database (FINDbase) () is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’.
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spelling pubmed-17471802007-02-22 FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide van Baal, Sjozef Kaimakis, Polynikis Phommarinh, Manyphong Koumbi, Daphne Cuppens, Harry Riccardino, Francesca Macek, Milan Scriver, Charles R. Patrinos, George P. Nucleic Acids Res Articles Frequency of INherited Disorders database (FINDbase) () is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’. Oxford University Press 2007-01 2006-11-28 /pmc/articles/PMC1747180/ /pubmed/17135191 http://dx.doi.org/10.1093/nar/gkl934 Text en © 2006 The Author(s) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
van Baal, Sjozef
Kaimakis, Polynikis
Phommarinh, Manyphong
Koumbi, Daphne
Cuppens, Harry
Riccardino, Francesca
Macek, Milan
Scriver, Charles R.
Patrinos, George P.
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
title FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
title_full FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
title_fullStr FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
title_full_unstemmed FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
title_short FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
title_sort findbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1747180/
https://www.ncbi.nlm.nih.gov/pubmed/17135191
http://dx.doi.org/10.1093/nar/gkl934
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