Harmonizing the interpretation of genetic variants across the world: The Malaysian experience

Ahmad Zubaidi, A.Latif and Nik Norliza, Nik Hassan and John-Paul, Plazzer (2016) Harmonizing the interpretation of genetic variants across the world: The Malaysian experience. BMC Research Notes, 9 (1). pp. 1-7. ISSN 17560500

[img] Image
Restricted to Registered users only

Download (148kB) | Request a copy


Background: Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report summarises the issues surrounding the development of the Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial variants and other types of genetic variation have corresponding databases which are not covered here, as they have specific issues that do not necessarily apply to germline variations. Results: The ethical, legal, social issues, intellectual property, ownership of the data, information technology implementation, and efforts to improve the standards and systems used in data sharing are discussed. Conclusion: An overarching framework such as provided by the Human Variome Project to co-ordinate activities is invaluable. Country Nodes, such as MyHVP, enable human gene variation associated with human diseases to be collected, stored and shared by all disciplines (clinicians, molecular biologists, pathologists, bioinformaticians) for a consistent interpretation of genetic variants locally and across the world.

Item Type: Article
Uncontrolled Keywords: Sharing genetic data, Variant database, Variation nomenclature
Subjects: Q Science > QH Natural history > QH301 Biology
Divisions: Faculty of Medicine
Depositing User: Syahmi Manaf
Date Deposited: 13 Sep 2022 05:03
Last Modified: 13 Sep 2022 05:03
URI: http://eprints.unisza.edu.my/id/eprint/7191

Actions (login required)

View Item View Item