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Human Mutation

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Human Mutation- Special Issue


THE HUGO MUTATION DATABASE INITIATIVE:

Issues, Databases, and Perspectives for the New Millennium
Volume 15, No. 1, January 2000

Editors:
R.G.H. Cotton
Haig H. Kazazian, Jr.

Managing Editor:
Mark H. Paalman

Contributors Include:

Johan T. den Dunnen
Stylianos E. Antonarakis
Charles R. Scriver
Piotr M. Nowacki
Heikki Lehväslaiho
Stephen M. Maurer
Bartha Maria Knoppers
Claude M. Laberge
A. Jamie Cuticchia
Michael Krawczak
David N. Cooper
Michael Ashburner
Alan F. Scott
David Valle
Victor A. McKusick
Stephen T. Sherry
Alastair F. Brown
Mark McKie
Christophe Béroud
Thierry Soussi
S. Minoshima
N. Shimizu

Human Mutation -- Editorial Office
John Wiley & Sons, Inc.
111 River Street
Hoboken, New Jersey 07030
Phone: (201) 748-6404
Fax: (201) 748-6398
E-mail: humu@wiley.com


Human Mutation-- Mutation Database Initiative Special Issue
Volume 15, No. 1, January 2000

Acknowledgments
Mark H. Paalman
View Abstract | Full Text PDF (Size: 39K)

Overview: Progress toward a new millennium of medical genetics
Haig H. Kazazian, Jr.
View Abstract | Full Text PDF (Size: 62K)

Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue
Richard G.H. Cotton
View Abstract | Full Text PDF (Size: 162K)

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Johan T. den Dunnen, Stylianos E. Antonarakis
View Abstract | Full Text PDF (Size: 208K)

Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
Charles R. Scriver, Piotr M. Nowacki, Heikki Lehväslaiho
View Abstract | Full Text PDF (Size: 140K)

Quality control in the discovery, reporting, and recording of genomic variation
Richard G.H. Cotton, Ourania Horaitis
View Abstract | Full Text PDF (Size: 228K)

Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative
Stephen M. Maurer
View Abstract | Full Text PDF (Size: 278K)

Ethical guideposts for allelic variation databases
Bartha Maria Knoppers, Claude M. Laberge
View Abstract | Full Text PDF (Size: 169K)

Central mutation databases - A review
Christopher J. Porter, C. Conover Talbot, Jr. , A. Jamie Cuticchia
View Abstract | Full Text PDF (Size: 251K)

Human Gene Mutation Database - A biomedical information and research resource
Michael Krawczak, Edward V. Ball, Iain Fenton, Peter D. Stenson, Shaun Abeysinghe, Nick Thomas, David N. Cooper
View Abstract | Full Text PDF (Size: 221K)

Sequence variation database project at the European Bioinformatics Institute
Heikki Lehväslaiho, Elia Stupka, Michael Ashburner
View Abstract | Full Text PDF (Size: 161K)

Online Mendelian Inheritance In Man (OMIM)
Ada Hamosh, Alan F. Scott, Joanna Amberger, David Valle, Victor A. McKusick
View Abstract | Full Text PDF (Size: 219K)

Future vision of the GDB Human Genome Database
A. Jamie Cuticchia
View Abstract | Full Text PDF (Size: 158K)

Use of molecular variation in the NCBI dbSNP database
Stephen T. Sherry, Minghong Ward, Karl Sirotkin
View Abstract | Full Text PDF (Size: 254K)

MuStaRTM and other software for locus-specific mutation databases
Alastair F. Brown, Mark A. McKie
View Abstract | Full Text PDF (Size: 655K)

UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases
Christophe Béroud, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Claudine Junien
View Abstract | Full Text PDF (Size: 240K)

Eye disorder database "KMeyeDB"
S. Minoshima, S. Mitsuyama, S. Ohno, T. Kawamura, N. Shimizu
View Abstract | Full Text PDF (Size: 244K)

PAHdb: A locus-specific knowledgebase
Charles R. Scriver, Paula J. Waters, Christineh Sarkissian, Shannon Ryan, Lynne Prevost, David Côté, Jaroslav Novak, Saeed Teebi, Piotr M. Nowacki
View Abstract | Full Text PDF (Size: 225K)

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis
Thierry Soussi, Karim Dehouche, Christophe Béroud
View Abstract | Full Text PDF (Size: 337K)

Page Updated: 04 December, 2002


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