| Title: |
Global Globin Network and adopting genomic variant database requirements for thalassemia |
| Authors: |
Halim-Fikri, Hashim; Zulkipli, Ninie Nadia; Alauddin, Hafiza; Bento, Celeste; Lederer, Carsten W; Kountouris, Petros; Kleanthous, Marina; Hernaningsih, Yetti; Thong, Meow-Keong; Mahmood, Muhammad Hamdi; Mohd Yasin, Norafiza; Esa, Ezalia; Elion, Jacques; Coviello, Domenico; Raja-Sabudin, Raja-Zahratul-Azma; El-Kamah, Ghada; Burn, John; Mohd Yusoff, Narazah; Ramesar, Raj; Zilfalil, Bin Alwi |
| Contributors: |
the International Collaboration Fund (IFC), Ministry of Science, Technology and Innovation (MOSTI), Malaysia; the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation; Ministry of International Trade and Industry (MITI), Malaysia; COST |
| Source: |
Database ; volume 2024 ; ISSN 1758-0463 |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
2024 |
| Description: |
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/ |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1093/database/baae080 |
| DOI: |
10.1093/database/baae080/59019654/baae080.pdf |
| Availability: |
https://doi.org/10.1093/database/baae080; https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae080/59019654/baae080.pdf |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.3D8DC65 |
| Database: |
BASE |