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Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.
Hassan, Nik Norliza Nik; Plazzer, John-Paul; Smith, Timothy D; Halim-Fikri, Hashim; Macrae, Finlay; Zubaidi, A A L; Zilfalil, Bin Alwi.
Afiliación
  • Hassan NN; Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. nnorliza69@gmail.com.
  • Plazzer JP; Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. johnpaul@variome.org.
  • Smith TD; Human Variome Project, The University of Melbourne, Victoria, Australia. tim@variome.org.
  • Halim-Fikri H; Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. halimfikri@gmail.com.
  • Macrae F; Faculty of Medicine, Medical Campus, Universiti Sultan Zainal Abidin (UniSZA), Jln. Sultan Mahmud, 20400, Kuala Terengganu, Terengganu, Malaysia. halimfikri@gmail.com.
  • Zubaidi AA; Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia. finlay.macrae@mh.org.au.
  • Zilfalil BA; Department of Medicine, The University of Melbourne, Victoria, Australia. finlay.macrae@mh.org.au.
BMC Res Notes ; 9: 125, 2016 Feb 26.
Article en En | MEDLINE | ID: mdl-26915360
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Genoma Humano / Bases de Datos Genéticas Tipo de estudio: Guideline Aspecto: Ethics Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Res Notes Año: 2016 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Genoma Humano / Bases de Datos Genéticas Tipo de estudio: Guideline Aspecto: Ethics Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Res Notes Año: 2016 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido