Monday, 13 November 2017 14:50

ITHANET pre-print online

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We are pleased to inform you that a preprint describing all sections of the ITHANET portal is now available online on bioRxiv (doi: https://doi.org/10.1101/209361). This is the first article resulting from our partnership with the HVP Global Globin 2020 Challenge. Most importantly, we would like to thank everyone who supported the ITHANET portal, contributed data and provided suggestions for its improvement. 

Abstract

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. However, the severity, ubiquity and surprising genetic complexity of the haemoglobinopathies call for an integrated website to serve as a free and comprehensive repository and tool for patients, scientists and health professionals alike. This paper presents the ITHANET community portal, an expanding resource for clinicians and researchers dealing with haemoglobinopathies. It integrates information on news, events, publications, clinical trials and haemoglobinopathy-related organisations and experts and, most importantly, databases of variations, epidemiology and diagnostic and clinical data. Specifically, ITHANET provides annotation for 2690 haemoglobinopathy-related variations, epidemiological data for more than 180 countries and information for more than 600 HPLC diagnostic reports. The ITHANET portal accepts and incorporates contributions to its content by local experts from any country in the world and is freely available for the public at http://www.ithanet.eu.

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