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