Halim-Fikri, Hashim and Zulkipli, Ninie Nadia and Alauddin, Hafiza and Bento, Celeste and Lederer, Carsten W. and Kountouris, Petros and Kleanthous, Marina and Hernaningsih, Yetti and Thong, Meow-Keong and Mahmood, Muhammad Hamdi and Yasin, Norafiza Mohd and Esa, Ezalia and Elion, Jacques and Coviello, Domenico and Raja-Sabudin, Raja-Zahratul-Azma and El-Kamah, Ghada and Burn, John and Yusoff, Narazah Mohd and Ramesar, Raj and Zilfalil, Bin Alwi and GGN, Global Globin Network (2024) Global Globin Network and adopting genomic variant database requirements for thalassemia. Database-the Journal of Biological Databases and Curation, 2024. baae080. ISSN 1758-0463, DOI https://doi.org/10.1093/database/baae080.
Full text not available from this repository.Abstract
Thalassemia is one of the most prevalent monogenic disorders in low- and middle-income countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies (abnormal hemoglobins and/or thalassemia) worldwide, necessitating global methods and solutions for effective and optimal therapy. LMICs are disproportionately impacted by thalassemia, and due to disparities in genomics awareness and diagnostic resources, certain LMICs lag behind high-income countries (HICs). This spurred the establishment of the Global Globin Network (GGN) in 2015 at UNESCO, Paris, as a project-wide endeavor within the Human Variome Project (HVP). Primarily aimed at enhancing thalassemia clinical services, research, and genomic diagnostic capabilities with a focus on LMIC needs, GGN aims to foster data collection in a shared database by all affected nations, thus improving data sharing and thalassemia management. In this paper, we propose a minimum requirement for establishing a genomic database in thalassemia based on the HVP database guidelines. We suggest using an existing platform recommended by HVP, the Leiden Open Variation Database (LOVD) (https://www.lovd.nl/). Adoption of our proposed criteria will assist in improving or supplementing the existing databases, allowing for better-quality services for individuals with thalassemia.Database URL: https://www.lovd.nl/
| Item Type: | Article |
|---|---|
| Funders: | Ministry of International Trade and Industry (MITI), Malaysia (304.PPSP.6150166.K151), International Collaboration Fund (IFC), Ministry of Science, Technology and Innovation (MOSTI), Malaysia (305.PPSP.6114202), European Union (EU), Republic of Cyprus through the Research and Innovation Foundation (EXCELLENCE/1216/92) ; (EXCELLENCE/1216/256), European Cooperation in Science and Technology (COST) (CA22119) |
| Subjects: | R Medicine > R Medicine (General) |
| Divisions: | Faculty of Medicine > Paediatrics Department |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 13 Feb 2025 06:13 |
| Last Modified: | 13 Feb 2025 06:13 |
| URI: | http://eprints.um.edu.my/id/eprint/47468 |
Actions (login required)
 |
View Item |
