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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

by Kleanthous, Marina , Old, John , Kountouris, Petros , Feleki, Xenia , Fanis, Pavlos , Lederer, Carsten W.

in Acids / Bioinformatics / Biology and Life Sciences / Biotechnology / Computer and Information Sciences / Content management software / Data bases / Databases, Genetic / Diagnostic systems / Disease / Embedding / Epidemiology / Gene clusters / Gene expression / Gene mapping / Genetics / Genomes / Genomics / Globins - genetics / Graphical representations / Hemoglobin / Hemoglobinopathies - classification / Hemoglobinopathies - epidemiology / Hemoglobinopathies - genetics / Hemoglobins / Humans / Internet / Medical personnel / Medicine and Health Sciences / Molecular Epidemiology / Mutation / Neurology / Phenotypes / Proteins / Research and Analysis Methods / Researchers / Sickle cell anemia / Software / Variation

2014

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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

by Kleanthous, Marina , Old, John , Kountouris, Petros , Feleki, Xenia , Fanis, Pavlos , Lederer, Carsten W.

2014

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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

by Kleanthous, Marina , Old, John , Kountouris, Petros , Feleki, Xenia , Fanis, Pavlos , Lederer, Carsten W.

2014

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Journal Article

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Kleanthous, Marina,

Old, John,

Kountouris, Petros,

Feleki, Xenia,

Fanis, Pavlos,

Lederer, Carsten W.

2014

Overview

Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in addition to numerous clinically important trans-acting disease modifiers encoded elsewhere and a multitude of polymorphisms with relevance for advanced diagnostic approaches. Moreover, new disease-linked variations are discovered every year that are not included in traditional and often functionally limited locus-specific databases. This paper presents IthaGenes, a new interactive database of haemoglobin variations, which stores information about genes and variations affecting haemoglobin disorders. In addition, IthaGenes organises phenotype, relevant publications and external links, while embedding the NCBI Sequence Viewer for graphical representation of each variation. Finally, IthaGenes is integrated with the companion tool IthaMaps for the display of corresponding epidemiological data on distribution maps. IthaGenes is incorporated in the ITHANET community portal and is free and publicly available at http://www.ithanet.eu/db/ithagenes.

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Publisher

Public Library of Science,Public Library of Science (PLoS)

Subject

Acids

/ Bioinformatics

/ Biology and Life Sciences

/ Biotechnology

/ Computer and Information Sciences

/ Content management software

/ Data bases