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ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic varia...

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Autores principales: van Baal, Sjozef, Zlotogora, Joël, Lagoumintzis, George, Gkantouna, Vassiliki, Tzimas, Ioannis, Poulas, Konstantinos, Tsakalidis, Athanassios, Romeo, Giovanni, Patrinos, George P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500166/
https://www.ncbi.nlm.nih.gov/pubmed/20650823
http://dx.doi.org/10.1186/1479-7364-4-5-361
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author van Baal, Sjozef
Zlotogora, Joël
Lagoumintzis, George
Gkantouna, Vassiliki
Tzimas, Ioannis
Poulas, Konstantinos
Tsakalidis, Athanassios
Romeo, Giovanni
Patrinos, George P
author_facet van Baal, Sjozef
Zlotogora, Joël
Lagoumintzis, George
Gkantouna, Vassiliki
Tzimas, Ioannis
Poulas, Konstantinos
Tsakalidis, Athanassios
Romeo, Giovanni
Patrinos, George P
author_sort van Baal, Sjozef
collection PubMed
description National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation.
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spelling pubmed-35001662012-11-17 ETHNOS: A versatile electronic tool for the development and curation of national genetic databases van Baal, Sjozef Zlotogora, Joël Lagoumintzis, George Gkantouna, Vassiliki Tzimas, Ioannis Poulas, Konstantinos Tsakalidis, Athanassios Romeo, Giovanni Patrinos, George P Hum Genomics Genome Databases National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation. BioMed Central 2010-06-01 /pmc/articles/PMC3500166/ /pubmed/20650823 http://dx.doi.org/10.1186/1479-7364-4-5-361 Text en Copyright ©2010 Henry Stewart Publications
spellingShingle Genome Databases
van Baal, Sjozef
Zlotogora, Joël
Lagoumintzis, George
Gkantouna, Vassiliki
Tzimas, Ioannis
Poulas, Konstantinos
Tsakalidis, Athanassios
Romeo, Giovanni
Patrinos, George P
ETHNOS: A versatile electronic tool for the development and curation of national genetic databases
title ETHNOS: A versatile electronic tool for the development and curation of national genetic databases
title_full ETHNOS: A versatile electronic tool for the development and curation of national genetic databases
title_fullStr ETHNOS: A versatile electronic tool for the development and curation of national genetic databases
title_full_unstemmed ETHNOS: A versatile electronic tool for the development and curation of national genetic databases
title_short ETHNOS: A versatile electronic tool for the development and curation of national genetic databases
title_sort ethnos: a versatile electronic tool for the development and curation of national genetic databases
topic Genome Databases
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500166/
https://www.ncbi.nlm.nih.gov/pubmed/20650823
http://dx.doi.org/10.1186/1479-7364-4-5-361
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