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IthaGenes: an interactive database for haemoglobin variations and epidemiology.

Petros Kountouris1, Carsten W Lederer1, Pavlos Fanis1

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|July 25, 2014
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Summary

IthaGenes is a new interactive database for inherited hemoglobinopathies, cataloging gene variations, phenotypes, and epidemiological data. This resource aids researchers in understanding and diagnosing these common monogenic diseases.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Hematology

Background:

  • Inherited hemoglobinopathies are prevalent monogenic diseases affecting millions globally.
  • Hundreds of mutations and polymorphisms are known, but new variations are constantly discovered.
  • Existing locus-specific databases are often limited in scope and functionality.

Purpose of the Study:

  • To introduce IthaGenes, a novel interactive database for hemoglobin variations.
  • To consolidate information on genes, variations, phenotypes, and publications related to hemoglobin disorders.
  • To integrate visualization and epidemiological tools for comprehensive data analysis.

Main Methods:

  • Development of an interactive database (IthaGenes) for hemoglobin variations.
  • Inclusion of gene and variation data, associated phenotypes, and relevant publications.
  • Integration with NCBI Sequence Viewer for graphical representation and IthaMaps for epidemiological data.

Main Results:

  • IthaGenes provides a centralized repository for hemoglobin variation data.
  • The database includes graphical visualization of variations and epidemiological distribution maps.
  • It is integrated into the ITHANET community portal for public access.

Conclusions:

  • IthaGenes enhances the study of inherited hemoglobinopathies by offering a comprehensive and interactive platform.
  • The database facilitates advanced diagnostic approaches and research into disease mechanisms.
  • Public availability promotes collaborative research and understanding of these global health issues.