Overview: Progress toward a new millennium of medical genetics
β Scribed by Haig H. Kazazian; Jr.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 60 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
β¦ Synopsis
In surveying the 16 reports presented in this special HUGO Mutation Database Initiative (MDI) issue of Human Mutation, one is struck by the unity of purpose evident. Over 55 scientists from around the globe have invested much time and effort into presenting, for the medical genetics community, useful articles covering issues crucial to promoting the mission of the MDI. The overall goals of the MDI are to facilitate communication between curators of locusspecific mutation databases (LSDBs) and encourage their integration into a system which allows computer access to up-to-date lists of mutations in human genes.
The individuals and groups invited to write for this issue are highly respected as being among the leaders in their fields and, indeed, have already offered much to their colleagues through their articles, lectures, and collaboration. It is by calling upon their collective expertise for this unified issue of Human Mutation that we hope to offer not only a snapshot of the accomplishments of the MDI but also a sense of the upcoming challenges-technical, legal, and ethical-it faces at the dawn of the new millennium.
Due to the tight deadlines for this issue and intervening responsibilities, some of those invited were unable to report on their area of expertise within the allotted time. We look forward to presenting these Special Articles as they become available, throughout Human Mutation's year 2000 publications (Volumes 15 and 16).
In this issue: Articles on nomenclature [den Dunnen and Antonarakis; page 7] and mutation database guidelines [Scriver et al., page 13] open this issue and codify the groundwork now accepted throughout most of the medical genetics-genomics community as essential for development of a consistent and reliable system of mutation description and reporting. Cotton and Horaitis [page 16] cover the topic of quality control in mutation re-
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