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

Human Genomics
Sjozef van BaalGeorge P Patrinos

Abstract

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, h...Continue Reading

References

Jun 1, 2005·Trends in Genetics : TIG·George P Patrinos, Anthony J Brookes
May 18, 2006·Human Mutation·Marina KleanthousGeorge P Patrinos
Apr 3, 2007·Journal of Medical Genetics·Richard G H CottonOurania Horaitis
May 13, 2010·Current Pharmaceutical Design·George LagoumintzisGeorge P Patrinos
Aug 5, 2010·Human Mutation·Sue PoveyUNKNOWN Ethics Committee of the Human Genome Organization (HUGO)

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Citations

Oct 12, 2012·Human Genetics·Harry Ostrer, Karl Skorecki
Nov 30, 2010·Nucleic Acids Research·Marianthi GeorgitsiGeorge P Patrinos
Feb 19, 2014·Journal of Biomedical Semantics·Mauno Vihinen
Nov 16, 2013·Nucleic Acids Research·Petros PapadopoulosGeorge P Patrinos
Jul 4, 2012·Human Mutation·George P PatrinosUNKNOWN International Confederation of Countries Advisory Council
Mar 19, 2016·Human Mutation·Abhishek Niroula, Mauno Vihinen
Sep 1, 2014·Personalized Medicine·David N CooperGeorge P Patrinos

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Software Mentioned

ETHNOS
FINDbase
Golden
Search
ETH nic database O perating S oftware ( ETHNOS )
wysiwygPRO
MEDGENET
Apache

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