ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource

S. Sinha; M.L. Black; S. Agarwal; R. Das; A.H. Bittles; M. Bellgard

doi:10.1002/humu.21510

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ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource

Journal article

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ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource

S. Sinha, M.L. Black, S. Agarwal, R. Das, A.H. Bittles and M. Bellgard

Human Mutation, Vol.32(8), pp.887-893

2011

DOI: https://doi.org/10.1002/humu.21510

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Abstract

Web-based informatics resources for genetic disorders have evolved from genome-wide databases like OMIM and HGMD to Locus Specific databases (LSDBs) and National and Ethnic Mutation Databases (NEMDBs). However, with the increasing amenability of genetic disorders to diagnosis and better management, many previously underreported conditions are emerging as disorders of public health significance. In turn, the greater emphasis on noncommunicable disorders has generated a demand for comprehensive and relevant disease-based information from end-users, including clinicians, patients, genetic epidemiologists, health administrators and policymakers. To accommodate these demands, country-specific and disease-centric resources are required to complement the existing LSDBs and NEMDBs. Currently available preconfigured Web-based software applications can be customized for this purpose. The present article describes the formulation and construction of a Web-based informatics resource for β-thalassemia and other hemoglobinopathies, initially for use in India, a multiethnic, multireligious country with a population approaching 1,200 million. The resource ThalInd () has been created using the LOVD system, an open source platform-independent database system. The system has been customized to incorporate and accommodate data pertinent to molecular genetics, population genetics, genotype-phenotype correlations, disease burden, and infrastructural assessment. Importantly, the resource also has been aligned with the administrative health system and demographic resources of the country.

Details

Title: ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource
Authors/Creators: S. Sinha (Author/Creator) - Murdoch University
M.L. Black (Author/Creator) - Murdoch University
S. Agarwal (Author/Creator) - Sanjay Gandhi Post Graduate Institute of Medical Sciences
R. Das (Author/Creator) - Post Graduate Institute of Medical Education and Research
A.H. Bittles (Author/Creator) - Murdoch University
M. Bellgard (Author/Creator) - Murdoch University
Publication Details: Human Mutation, Vol.32(8), pp.887-893
Publisher: John Wiley & Sons Inc.
Identifiers: 991005542811807891
Copyright: © 2011 Wiley-Liss, Inc.
Murdoch Affiliation: Centre for Comparative Genomics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.225 Hematologic Diseases; 1.225.626 Sickle Cell Disease
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics