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

Hassan NN 1 , Plazzer JP 2 , Smith TD 3 , Halim-Fikri H 4 , Macrae F 5 , Zubaidi AA 6 Show all authors , Zilfalil BA 7 , Members of Malaysian Node of HVP

Affiliations 

  • 1 Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. nnorliza69@gmail.com
  • 2 Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. johnpaul@variome.org
  • 3 Human Variome Project, The University of Melbourne, Victoria, Australia. tim@variome.org
  • 4 Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. halimfikri@gmail.com
  • 5 Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. finlay.macrae@mh.org.au
  • 6 Faculty of Medicine, Medical Campus, Universiti Sultan Zainal Abidin (UniSZA), Jln. Sultan Mahmud, 20400, Kuala Terengganu, Terengganu, Malaysia. azubaidi@unisza.edu.my
  • 7 Department of Pediatric, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian, 16150, Kota Bharu, Kelantan, Malaysia. zilfalil@gmail.com
BMC Res Notes, 2016;9:125.
PMID: 26915360 DOI: 10.1186/s13104-015-1798-0

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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