Global Globin Network and adopting genomic variant database requirements for thalassemia

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 therap...

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Main Authors: Hashim, Halim-Fikri, Ninie Nadia, Zulkiplii, Hafza, Alauddin, Celestea, Bento, Carsten, W Lederer, Petros, Kountouris, Marina, Kleanthous, Yetti, Hernaningsih, Thong, Meow Keong, Muhammad Hamdi, Mahmood, Norafiza, Mohd Yasin, Ezalia, Esa, Jacques, Elion, Domenico, Coviello, Raja Zahratul Azma, Raja Sabudin, Ghada, El-Kamah, John, Burn, Narazah, Mohd Yusoff, Raj, Ramesar, Zilfalil, Alwi
Format: Article
Language:English
Published: Oxford University Press 2024
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Online Access:http://ir.unimas.my/id/eprint/46285/1/Global%20Globin%20Network%20and%20adopting%20genomic.pdf
http://ir.unimas.my/id/eprint/46285/
https://academic.oup.com/database/article/doi/10.1093/database/baae080/7749354
https://doi.org/10.1093/database/baae080
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Institution: Universiti Malaysia Sarawak
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spelling my.unimas.ir-462852024-10-11T02:33:43Z http://ir.unimas.my/id/eprint/46285/ Global Globin Network and adopting genomic variant database requirements for thalassemia Hashim, Halim-Fikri Ninie Nadia, Zulkiplii Hafza, Alauddin Celestea, Bento Carsten, W Lederer Petros, Kountouris Marina, Kleanthous Yetti, Hernaningsih Thong, Meow Keong Muhammad Hamdi, Mahmood Norafiza, Mohd Yasin Ezalia, Esa Jacques, Elion Domenico, Coviello Raja Zahratul Azma, Raja Sabudin Ghada, El-Kamah John, Burn Narazah, Mohd Yusoff Raj, Ramesar Zilfalil, Alwi QH426 Genetics R Medicine (General) RB Pathology 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. Oxford University Press 2024 Article PeerReviewed text en http://ir.unimas.my/id/eprint/46285/1/Global%20Globin%20Network%20and%20adopting%20genomic.pdf Hashim, Halim-Fikri and Ninie Nadia, Zulkiplii and Hafza, Alauddin and Celestea, Bento and Carsten, W Lederer and Petros, Kountouris and Marina, Kleanthous and Yetti, Hernaningsih and Thong, Meow Keong and Muhammad Hamdi, Mahmood and Norafiza, Mohd Yasin and Ezalia, Esa and Jacques, Elion and Domenico, Coviello and Raja Zahratul Azma, Raja Sabudin and Ghada, El-Kamah and John, Burn and Narazah, Mohd Yusoff and Raj, Ramesar and Zilfalil, Alwi (2024) Global Globin Network and adopting genomic variant database requirements for thalassemia. Database, 2024. pp. 1-14. ISSN 1758-0463 https://academic.oup.com/database/article/doi/10.1093/database/baae080/7749354 https://doi.org/10.1093/database/baae080
institution Universiti Malaysia Sarawak
building Centre for Academic Information Services (CAIS)
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaysia Sarawak
content_source UNIMAS Institutional Repository
url_provider http://ir.unimas.my/
language English
topic QH426 Genetics
R Medicine (General)
RB Pathology
spellingShingle QH426 Genetics
R Medicine (General)
RB Pathology
Hashim, Halim-Fikri
Ninie Nadia, Zulkiplii
Hafza, Alauddin
Celestea, Bento
Carsten, W Lederer
Petros, Kountouris
Marina, Kleanthous
Yetti, Hernaningsih
Thong, Meow Keong
Muhammad Hamdi, Mahmood
Norafiza, Mohd Yasin
Ezalia, Esa
Jacques, Elion
Domenico, Coviello
Raja Zahratul Azma, Raja Sabudin
Ghada, El-Kamah
John, Burn
Narazah, Mohd Yusoff
Raj, Ramesar
Zilfalil, Alwi
Global Globin Network and adopting genomic variant database requirements for thalassemia
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.
format Article
author Hashim, Halim-Fikri
Ninie Nadia, Zulkiplii
Hafza, Alauddin
Celestea, Bento
Carsten, W Lederer
Petros, Kountouris
Marina, Kleanthous
Yetti, Hernaningsih
Thong, Meow Keong
Muhammad Hamdi, Mahmood
Norafiza, Mohd Yasin
Ezalia, Esa
Jacques, Elion
Domenico, Coviello
Raja Zahratul Azma, Raja Sabudin
Ghada, El-Kamah
John, Burn
Narazah, Mohd Yusoff
Raj, Ramesar
Zilfalil, Alwi
author_facet Hashim, Halim-Fikri
Ninie Nadia, Zulkiplii
Hafza, Alauddin
Celestea, Bento
Carsten, W Lederer
Petros, Kountouris
Marina, Kleanthous
Yetti, Hernaningsih
Thong, Meow Keong
Muhammad Hamdi, Mahmood
Norafiza, Mohd Yasin
Ezalia, Esa
Jacques, Elion
Domenico, Coviello
Raja Zahratul Azma, Raja Sabudin
Ghada, El-Kamah
John, Burn
Narazah, Mohd Yusoff
Raj, Ramesar
Zilfalil, Alwi
author_sort Hashim, Halim-Fikri
title Global Globin Network and adopting genomic variant database requirements for thalassemia
title_short Global Globin Network and adopting genomic variant database requirements for thalassemia
title_full Global Globin Network and adopting genomic variant database requirements for thalassemia
title_fullStr Global Globin Network and adopting genomic variant database requirements for thalassemia
title_full_unstemmed Global Globin Network and adopting genomic variant database requirements for thalassemia
title_sort global globin network and adopting genomic variant database requirements for thalassemia
publisher Oxford University Press
publishDate 2024
url http://ir.unimas.my/id/eprint/46285/1/Global%20Globin%20Network%20and%20adopting%20genomic.pdf
http://ir.unimas.my/id/eprint/46285/
https://academic.oup.com/database/article/doi/10.1093/database/baae080/7749354
https://doi.org/10.1093/database/baae080
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