Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/77676
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Type: Journal article
Title: Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011
Author: Howard, H.
Beaudet, A.
Lopes, V.
Lyne, M.
Suthers, G.
Van den Akker, P.
Wertheim-Tysarowska, K.
Willems, P.
Macrae, F.
Citation: American Journal of Medical Genetics. Part A, 2012; 158A(11):2763-2766
Publisher: Wiley-Liss
Issue Date: 2012
ISSN: 1552-4825
1552-4833
Statement of
Responsibility: 
Heather J. Howard, Arthur Beaudet, Vera Gil-da-Silva Lopes, Mike Lyne, Graeme Suthers, Peter Van den Akker, Katarzyna Wertheim-Tysarowska, Patrick Willems, and Finlay Macrae
Abstract: The need for Locus-Specific Databases, with disease-specific experts and curators, is an essential ingredient in a process to enable the benefits of the advances in sequencing and mutational analysis to be realized across the genome. Next generation sequencing provides both astounding opportunities and challenges, especially for genetic counsellors. An approach coordinated at a genome wide, international level, supported by well-organized disease-specific respected organizations is a model most likely to be successful, but committed resourceful professionals working in local poorly resourced environments can make valuable contributions that can grow. Bioinformatic tools to sift and integrate multiple domains of information are being developed, and play a major part in meeting the challenges. Regulation of providers, including a requirement for them to submit mutational information to central databases, also should assist to reach the goals needed to realize the opportunities. There is also a need to agree on governance of Locus-Specific Databases (LSDBs) at an international level, and for adequate international funding to support this need, to ensure humanity reaps the benefits of the current molecular genetic revolution. The Human Variome Project offers this, working also with the other major initiatives with similar objectives. This report concludes with Recommendations for the Human Variome Project stemming from the presentations and discussions at the meeting.
Keywords: disease-specific database; LSDB; mutation; variation
Rights: © 2012 Wiley Periodicals, Inc.
RMID: 0020122929
DOI: 10.1002/ajmg.a.35392
Appears in Collections:Medicine publications

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