How to Cite this Article: Howard HJ, Beaudet A, Gil-da-Silva Lopes V, Lyne M, Suthers G, Van den Akker P, Wertheim-Tysarowska K, Willems P, Macrae F. 2012. Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. Am J Med Genet Part A 158A: 2763–2766.
Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011†
Article first published online: 18 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2763–2766, November 2012
How to Cite
Howard, H. J., Beaudet, A., Gil-da-Silva Lopes, V., Lyne, M., Suthers, G., Van den Akker, P., Wertheim-Tysarowska, K., Willems, P. and Macrae, F. (2012), Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. Am. J. Med. Genet., 158A: 2763–2766. doi: 10.1002/ajmg.a.35392
- Issue published online: 17 OCT 2012
- Article first published online: 18 SEP 2012
- Manuscript Accepted: 5 MAR 2012
- Manuscript Received: 27 SEP 2011
- disease-specific database;
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. © 2012 Wiley Periodicals, Inc.