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IthaScore, a gene-ranking metric for haemoglobinopathy-specific phenotypes

IthaScore, a gene-ranking metric for haemoglobinopathy-specific phenotypes

2020-04-03
IthaScore, a gene-ranking metric for haemoglobinopathy-specific phenotypes

The ITHANET portal is an expanding resource for clinicians and researchers dealing with haemoglobinopathies by integrating information on database of variations (IthaGenes), epidemiology (IthaMaps) and HPLC data (IthaChrom), and also now gene-ranking metric IthaScore

Haemoglobinopathies are the commonest monogenic diseases, with millions of carriers and patients worldwide. Online resources for haemoglobinopathies are largely divided into specialised sites catering for patients, researchers and clinicians separately.

The ITHANET portal is an expanding resource for clinicians and researchers dealing with haemoglobinopathies by integrating information on news, events, publications, clinical trials and haemoglobinopathy-related organisations and experts and, most importantly, databases of variations (IthaGenes), epidemiology (IthaMaps) and HPLC data (IthaChrom).

ITHANET has recently published "Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies" in the Journal of Clinical Medicine, describing the first evidence-based gene ranking metric for haemoglobinopathy-specific phenotypes, called IthaScore. This innovative ranking metric gives users an estimate of the strength of evidence for genes associated with specific and distinctive clinical phenotypes in haemoglobinopathies.

By utilising curated data in the IthaGenes database of the portal, IthaScore successfully reflects current knowledge for well-established disease modifiers, while it can be dynamically updated with emerging evidence. Functional enrichment analysis further demonstrates the capacity of IthaScore to unravel the molecular basis of phenotypic diversity and identify new genes with plausible influence on haemoglobinopathy-specific phenotypes.

IthaScore will be incorporated in IthaGenes within the next few weeks. 


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