Relevant Publications

Horaitis O, Talbot Jr. CC, Phomarinh M, Phillips KM, Cotton RGH (2007) A Database of Locus-Specific Databases. Nature Genetics 39: p425
Patrinos GP and Brookes AJ. (2005) DNA, diseases and databases: disasterously deficient. TIG. 21: 333-338
Cotton RGH, Kazazian Jr HH. (Early View) Toward a Human Variome Project
Hum Mut
Horaitis O. and Cotton R.G.H. (2004) The Challenge of Documenting Mutation Across the Genome: the Human Genome Variation Society Approach. Hum Mut (23:447-452)
Cotton R.G.H. and Horaitis O., Human Genome Variation Society. In: Cooper DN (ed.) Nature Encyclopedia of the Human Genome. Nature Reference (2003) vol. 3, pp. 361-362. London: Nature Publishing Group.
Richard G.H. Cotton, Haig H. Kazazian Jr (2002) Human Mutation: The official journal of the Human Genome Variation Society (HGVS) HumMut 19: 1
Cotton R.G.H. and Horaitis O. (2002) The HUGO Mutation Database Initiative. The Pharmacogenomics Journal 2: 16-19
Richard G.H. Cotton (2000) Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue Hum Mut 15:4-6
 Cotton RGH & Horaitis O. (2000) Quality control in the discovery, reporting, and recording of genomic variation. Hum Mut 15: 16-21
Maurer S. (2000) Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative. Hum Mut 15: 22-29
Cotton RGH and Scriver CR (1998) Proof of Disease Causing Mutation Hum Mut 12:1-3
R.G.H. Cotton, V.A. McKusick and C.R. Scriver The HUGO Mutation Database Initiative (Letter) Science 279: 10-11 1998.
G-J van Ommen, B.A. Knoppers, R.G.H. Cotton, J. Strauss, S. Povey, N. Doggett and L. Cavalli-Sforza HUGO's Midlife Crisis: Life Begins at 40 (Letter) Nature Genetics 19:113-114 1998.
C.R. Scriver, R.G.H. Cotton, S. Antonarakis and V.A. Mckusick. Mutation Database Initiative to go forward under HUGO Genome Digest 4(1): 12-15 1997.
den Dunnen JT & Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mut 15: 7-12
Antonarakis SE and the Nomenclature Working Group (1998) Recommendations for a Nomenclature System for Human Gene Mutations. Hum Mut 11: 1-3
Beaudet AL and the Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mut 8:197-202
Beutler E, McKusick VA, Motulsky A, Scriver CR, Hutchinson F (1996) Mutation nomenclature: nicknames, systematic names and unique identifiers. Hum Mut 8: 203-206
Antonarakis SE, McKusick VA (1994) Discussion on mutation nomenclature. Hum Mut 4:166
Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mut 2:245
Beutler E (1993) The designation of mutations. Am J HumGenet 53:783-785


Publications & other information about the project can be found on the HVP Website:


Cotton RGH, Sallée C, Knoppers BM (2005) Locus-specific databases: from ethical principles to practice. Hum Mut 26, 489-493
Cotton RGH. and Horaitis O. (2003) Mutation Databases and Ethical Considerations. In Populations and Genetics: Legal and Socio-Ethical Perspectives Ed. Knoppers B.M. pp. 169 – 178. Martinus Nijhoff, Leiden/Boston
Knoppers BM & Laberge CM (2000) Ethical guideposts for allelic variation databases Hum Mut 15: 30-35


Ivo F.A.C. Fokkema, Johan T. den Dunnen, Peter E.M. Taschner (2005) LOVD: Easy creation of a locus specific sequence variation database using an LSDB in-a-box approach Hum Mut 26:63-68
Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Mireille Claustres (2005) UMD (Universal Mutation Database): 2005 update Hum Mut 26: Pages: 184-191

Maurer S.M., Firestone R.B., and Scriver C.R. (2000) Science's Neglected Legacy. Nature 405: 117-120 Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. (2000) UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases. Hum Mut 15: 86-94
Brown AF & McKie MA (2000) MuStaRTM and other software for locus-specific mutation databases. Hum Mut 15: 76-85


George P. Patrinos, Sjozef van Baal, Michael B. Petersen, Manoussos N. Papadakis (2005) Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population Hum Mut 25: 327-333
Kati Sipilä, Pertti Aula (2002) Database for the mutations of the Finnish disease heritage
Hum Mut 19: 16-22
Ahmad S. Teebi, Saeed A. Teebi, Christopher J. Porter, A. Jamie Cuticchia (2002) Arab genetic disease database (AGDDB): A population-specific clinical and mutation database HumMut
19: 615-621



It is impossible to list all Mutation Database papers here. A search in Human Mutation or other journal e.g. NAR will find a number of other mutation database related papersn Human Mutation will find a number of other mutation database related papers
Cotton RGH et al (2008) Recommendations for Locus-Specific Databases and their Curation. Hum Mutat. 29: 2-5
Cotton RGH, Phillips K and Horaitis. (2007) A Survey of Locus Specific Database Curation. J. Med. Genet. e72
Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, Mireille Claustres, Christophe Béroud, Thierry Soussi (EARLY VIEW) The UMD TP53 database and website: update and revisions
Rebecca E. Saunders, Timothy H.J. Goodship, Peter F. Zipfel, Stephen J. Perkins (Early View) An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations Hum Mut
Csaba Ortutay, Jouni Väliaho, Kaj Stenberg, Mauno Vihinen (2005) KinMutBase: A registry of disease-causing mutations in protein kinase domains Hum Mut 25:435-442

Horaitis O. and Cotton R.G.H. (2005) Mutation Databases. In Guide to Mutation Detection . Editors Graham R. Taylor, Ian N. Day, Human Genome Organization (HUGO). Chapter 11. Wiley London
Teich N., Kein V, Mossner J. Cotton RGH, and Horaitis O. The WayStation: the novel way for the collection of pancreatitis associated mutations. (2004) Pancreatology 4(3-4):249-250. Epub
Horaitis O. and Cotton R. G. H. (2003) Human Mutation Databases, Current Protocols in Human Genetics Wiley-Liss, New York. 7.11.1-7.11.12
Claustres M., Horaitis O., Vanevski M.,and Cotton R.G.H. (2002) Time For A Unified System Of Mutation Description and Reporting: A Review of Locus Specific Mutation Databases Genome Res 12:680-688
Horaitis O., Scriver C.R., and Cotton R.G.H. (2001) 8th Ed., The Metabolic and Molecular Bases of Inherited Disease Chapter 1, Appendix 1-2, Locus-Specific Mutation Databases, McGraw Hill, p113-125
Szabo C., Masiello A., Ryan J.F., The BIC Consortium, and Brody L.C. (2000) The Breast Cancer Information Core: Database Design, Structure, and Scope Hum Mut 16: 123-131
Sabbagh Y., Jones A.O., and Tenenhouse H.S. (2000) PHEXdb, a Locus-Specific Database for Mutations Causing X-Linked Hypophosphatemia. Hum Mut 16: 1-6
Cuticchia AJ (2000) Future vision of the GDB Human Genome Database. Hum Mut 15: 62-67
Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA (2000) Online Mendelian Inheritance In Man (OMIM) Hum Mut 15: 57-61
Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN (2000) Human Gene Mutation Database - A biomedical information and research resource. Hum Mut 15: 45-51
Lehväslaiho H, Stupka E, Ashburner M. (2000) Sequence variation database project at the European Bioinformatics Institute. Hum Mut 15: 52-56
Minoshima S, Mitsuyama S, Ohno S, Kawamura T, Shimizu N. (2000) Eye disorder database KMeyeDB. Hum Mut 15: 95-98
Porter CJ, Talbot Jr CC, Cuticchia AJ (2000) Central mutation databases - A review Hum Mut 15: 7-1236-44
Scriver CR, Nowacki PM, Lehväslaiho H. (2000) Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress Hum Mut 15: 13-15
Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Côté D, Novak J, Teebi S, Nowacki PM. (2000) PAHdb: A locus-specific knowledgebase Hum Mut 15: 99-104
Sherry ST, Ward M, Sirotkin K. (2000) Use of molecular variation in the NCBI dbSNP database. Hum Mut 15: 68-75
Soussi T, Dehouche K, Béroud C. (2000) p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis. Hum Mut 15: 105-113
Scriver C.R. and Nowacki P.M. (1999) Genomics, mutations and the Internet: The naming and use of parts. J. Inher. Metab. Dis. 22: 519-530
Fung D.C.Y., Yu B., Littlejohn T., and Trent R.J. (1999) An Online Locus-Specific Mutation Database for Familial Hypertrophic Cardiomyopathy Hum Mut 14: 326-332
Scriver C.R., Nowacki P.M., and Lehvaslaiho H. (1999) Guidelines and Recommendations for Content, Structure and Deployment of Mutation Databases. Hum Mut 13: 344-350
Cotton RGH (1998) Mutation Detection and Mutation Databases. Clin Chem Lab Med 36(8): 519-522
H. Lehvaslaiho, M. Ashburner & T. Etzold (1998) Unified access to mutation databases. TIG 14:205-206
R.G.H. Cotton Phenotype, Mutation and Genetic Linkage Databases and their Links to Sequence Databases. In Nucleic Acid and Protein Databases and How to Use them. Ed. M.J. Bishop. Academic Press 1998.
Touching Base-Global mutation Database Nature Genetics 17:134 1997.
R.G.H. Cotton Mutation databases: their importance and relevance to Pterin and Folate Enzymes. Proceedings of the Eleventh International Symposium of Pteridines and Folates, Berchtesgaden, Germany, June 15-20 (1997) Chemistry and Biology of Pteridines and Folates 1997 709-712 Blackwell Science.
R.G.H. Cotton Locus Specific Mutation Databases In Laboratory Protocols OUP Oxford - Ed U. Landegren. p5-7 1996. R.G.H. Cotton, C.R. Scriver and V.A. McKusick HUGO's second meeting on Locus Specific Mutation Databases Genome Digest 3(2): 14-15 1996.
R.G.H. Cotton, C.R. Scriver and V.A. McKusick Locus Specific Mutation Databases - a resource. Genome Digest 3(1): 6-10 1996. R.G.H. Cotton Mutation Database Initiative Underway. Human Genome News 8(1): 13-14 1996.

William S. Oetting, Tania Tabone (2005) The 2004 Human Genome Variation Society scientific meeting
Hum Mut 26160-163
Auerbach A. D. 8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada (2000) Hum Mut 16: 265-268
Horaitis O. and Cotton RGH. (2000) 7th International HUGO Mutation Database Meeting, 19th October, San Francisco, U.S.A. Hum Mut 15: 288-292
Horaitis O. and Cotton R.G.H. (1999) 6th International HUGO Mutation Database Meeting, 27th March 1999, Brisbane, Australia Hum Mut 14: 183-185
Horaitis O. and Cotton R.G.H. (1999) 5th International HUGO Mutation Database Meeting Hum Mut 13:343
Auerbach AD and Cotton RGH (1998) Mutation Database Meeting, 27th March 1998. Hum Mut 12:367




Theme by Danetsoft and Danang Probo Sayekti inspired by Maksimer