John Paul Plazzer

Dr. John Paul Plazzer

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Research Focus & Metrics

Academic Career Length

14Years (2013-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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27 February 2013 in Familial Cancer
Verified
Journal Article
Closed access
PDF file
JPJohn Paul Plazzer
John Paul Plazzer
RSR. H. Sijmons
R. H. Sijmons
MWM. O. Woods
M. O. Woods
PPP. Peltomäki
P. Peltomäki
BTBryony Thompson
Bryony Thompson
FMF. Macrae
F. Macrae

26 February 2016 in BMC Research Notes
Verified
Journal Article
Open access
PDF file
NHNik Norliza Nik Hassan
Nik Norliza Nik Hassan
MHMembers Of Malaysian Node Of Hvp
Members Of Malaysian Node Of Hvp
JPJohn Paul Plazzer
John Paul Plazzer
TSTimothy D. Smith
Timothy D. Smith
BHBin Hashim Halim-Fikri
Bin Hashim Halim-Fikri
BZBin Alwi Zilfalil
Bin Alwi Zilfalil
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. 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. 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.

5 May 2018
Verified
Book Chapter
Closed access
PDF file
JPJohn Paul Plazzer
John Paul Plazzer
JDJohan Den Dunnen
Johan Den Dunnen
FMFinlay Macrae
Finlay Macrae