Harmonizing the interpretation of genetic variants across the world: the Malaysian experienceReport as inadecuate




Harmonizing the interpretation of genetic variants across the world: the Malaysian experience - Download this document for free, or read online. Document in PDF available to download.

BMC Research Notes

, 9:125

First Online: 26 February 2016Received: 22 January 2015Accepted: 14 December 2015DOI: 10.1186-s13104-015-1798-0

Cite this article as: Nik Hassan, N.N., Plazzer, JP., Smith, T.D. et al. BMC Res Notes 2016 9: 125. doi:10.1186-s13104-015-1798-0

Abstract

BackgroundDatabases 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.

ResultsThe 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.

ConclusionAn 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.

KeywordsSharing genetic data Variant database Variation nomenclature AbbreviationsInSiGHTInternational Society for Gastrointestinal Hereditary

MyHVPMalaysian Node of the Human Variome Project

HVPHuman Variome Project

GIgastrointestinal

LOVDLeiden Open Variation Database

GDSDbgene-disease specific databases

UMDUniversal Mutation Database

LSDBlocus-specific database

DMuDbdiagnostic mutation database

CAGSConsortium of Arab Genetics Societies

HVP SEA NodeSoutheast AsiaSEA regional node of HVP

MOSTIMalaysian Ministry of Sciences, Technology and Innovation

MOEMinistry of Education

UNESCOThe United Nations Educational, Scientific and Cultural Organization

NCBINational Center for Biotechnology Information, UCSC Genome Browser: University of California, Santa Cruz

PHPhypertext pre-processor

SQLstructured query language

HGVSHuman Genome Variation Society

CGIcommon gateway interface

SNPsingle nucleotide polymorphism

HUGOHuman Genome Organization

WHOWorld Health Organization

ARTAssisted Reproductive Technology

ELSIethical, legal and social issues

DNAdeoxyribonucleic acid

Download fulltext PDF



Author: Nik Norliza Nik Hassan - John-Paul Plazzer - Timothy D. Smith - Hashim Halim-Fikri - Finlay Macrae - A. Zubaidi AL - Bin 

Source: https://link.springer.com/







Related documents