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  1. Maija RJ Kohonen-Corish, Timothy D Smith, Helen M Robinson and others. Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012. Genetics in Medicine 15(7):507–512, 2013. URL, DOI

  2. Mauno Vihinen, Johan T Dunnen, Raymond Dalgleish and Richard G H Cotton. Guidelines for establishing locus specific databases. Human Mutation 33(2):298–305, February 2012. URL, DOI

  3. Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E M Taschner and Johan T Dunnen. Curating gene variant databases (LSDBs): Toward a universal standard. Human Mutation 33(2):291–297, February 2012. URL, DOI

  4. Timothy D Smith, Helen M Robinson and Richard GH Cotton. The Human Variome Project Beijing meeting. Journal of Medical Genetics 49(4):284-289, 2012. URL, DOI

  5. John-Paul Plazzer, Johan T Dunnen, Timothy D Smith, Finlay Macrae and Richard GH Cotton. Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. The Clinical Biochemist – Reviews 33(1):21-24, 2012. URL

  6. George P Patrinos, Timothy D Smith, Heather Howard, Fahd Al-Mulla, Lofti Chouchane, Andreas Hadjisavvas, Sherifa A Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S Ramesar, Feliciano J Ramos, Thomy Ravel, Mona O El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D Auerbach, Kevin Carpenter, Garry R Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G H Cotton, David Rimoin and International Confederation of Countries Advisory Council. Human Variome Project Country Nodes: Documenting genetic information within a country. Human Mutation 33(11):1513-1519, 2012. URL, DOI

  7. Heather J Howard, Arthur Beaudet, Vera Gil-da-Silva Lopes, Mike Lyne, Graeme Suthers, Peter Van Akker, Katarzyna Wertheim-Tysarowska, Patrick Willems and Finlay Macrae. Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. American Journal of Medical Genetics Part A 158A(11):2763–2766, 2012. URL, DOI

  8. The Editor. On not reinventing the wheel. Nature Genetics 44:233, 2012. URL, DOI

  9. Peter E M Taschner and Johan T Dunnen. Describing structural changes by extending HGVS sequence variation nomenclature. Human Mutation 32(5):507–511, 2011. URL, DOI

  10. Mark E Samuels and Guy A Rouleau. The case for locus-specific databases. Nature Reviews Genetics 12:378–379, 2011. URL, DOI

  11. George P Patrinos, Jumana Al Aama, Aida Al Aqeel, Fahd Al-Mulla, Joseph Borg, Andrew Devereux, Alex E Felice, Finlay Macrae, Makia J Marafie, Michael B Petersen, Ming Qi, Rajkumar S Ramesar and Joel Zlotogora. Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Human Mutation 32(1):2-9, 2011. URL, DOI

  12. Vural Ozdemir, David S Rosenblatt, Louise Warnich, Sanjeeva Srivastava, Ghazi O Tadmouri, Ramy K Aziz, Panga Jaipal Reddy, Aresha Manamperi, Edward S Dove, Yann Joly, Ma'n H Zawati, Candan Hizel, Yasemin Yazan, Leela John, Emmanuelle Vaast, Adam S Ptolemy, Samer A Faraj, Eugene Kolker and Richard G H Cotton. Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Current Pharmacogenomics and Personalized Medicine 9(4):243-25, 2011. URL

  13. Ivo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, J Celli, Jeroen F J Laros and Johan T Dunnen. LOVD v.2.0: the next generation in gene variant databases. Human Mutation 32(5):557–563, 2011. URL, DOI

  14. The Editor. Crowdsourcing human mutations. Nature Genetics 43:279, 2011. URL, DOI

  15. Richard G H Cotton, Mauno Vihinen, Dunnen for the Human Variome Project Nomenclature and Johan Standards T Group. Genetic Tests Need the Human Variome Project. Genetic Testing and Molecular Biomarkers 15(1-2):3-3, 2011. URL, DOI

  16. A D Auerbach, J Burn, J -J Cassiman, M Claustres, RGH Cotton, G Cutting, J T Dunnen, M El-Ruby, Falcon A Vargas, M S Greenblatt, F Macrae, Y Matsubara, D L Rimoin, M Vihinen and Van C Broeckhoven. Mutation (variation) databases and registries: a rationale for coordinationof efforts. Nature Reviews Genetics 12:881, 2011. URL, DOI

  17. Jumana AlAama, Timothy D Smith, Alan lo, Heather Howard, Alexandria A Kline, Matthew Lange, Jim Kaput and Richard GH Cotton. Initiating a Human Variome Project Country Node. Human Mutation 32(5):501-506, 2011. URL, DOI

  18. Sue Povey, Aida Al I Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T Dunnen, Helen V Firth, Marc S Greenblatt, Carol Isaacson Barash, Michael Parker, George P Patrinos, Judith Savige, Maria-Jesus Sobrido, Ingrid Winship and Richard G H Cotton. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Human Mutation 31(11):1179–1184, 2010. URL

  19. Christina Mitropoulou, Adam J Webb, Konstantinos Mitropoulos, Anthony J Brookes and George P Patrinos. Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea. Human Mutation 31(10):1109–1116, 2010. URL, DOI

  20. Maija R J Kohonen-Corish, Jumana Y Al-Aama, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe B A©roud, John Burn, Fiona Cunningham, Garry R Cutting, Johan T Dunnen, Marc S Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela M A¶slein, Sue Povey, Raj Ramesar, Sue Richards, Daniela Seminara, Mar A­a-Jes Aºs Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship and Richard G H Cotton. How to catch all those mutations–-the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation 31(12):1374–1381, 2010. URL

  21. Jim Kaput, Chris Evelo, Giuditta Perozzi, Ben Ommen and Richard Cotton. Connecting the Human Variome Project to nutrigenomics. Genes and Nutrition 5:275-283, 2010. URL

  22. Heather J Howard, Ourania Horaitis, Richard G H Cotton, Mauno Vihinen, Raymond Dalgleish, Peter Robinson, Anthony J Brookes, Myles Axton, Robert Hoffmann and Sylvie Tuffery-Giraud. The Human Variome Project (HVP) 2009 Forum Towards Establishing Standards. Human Mutation 31(3):366–367, 2010. URL

  23. Richard G H Cotton and Finlay A Macrae. Reducing the burden of inherited disease: the Human Variome Project. The Medical Journal of Australia 192(11):628–629, 2010. URL

  24. Jim Kaput, Richard G H Cotton, Lauren Hardman, Michael Watson, Aida Al I Aqeel, Jumana Y Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D Auerbach, Bharati Bapat, Inge T Bernstein, Jong Bhak, Stacey L Bleoo, Helmut Bl A¶cker, Steven E Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon-Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun-Jun Chung, Mireille Claustres, Garry Cutting, Raymond Dalgleish, Johan T Dunnen, Carlos D A­az, Steven Dobrowolski, Rosário M N Santos, Rosemary Ekong, Simon B Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, Maria V Golubenko, Marc S Greenblatt, Ada Hamosh, John M Hancock, Ross Hardison, Terence M Harrison, Robert Hoffmann, Rania Horaitis, Heather J Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong-Young Lee, Vera L Gil-da-Silva-Lopes, Finlay A Macrae, Donna Maglott, Makia J Marafie, Steven G E Marsh, Yoichi Matsubara, Ludwine M Messiaen, Gabriela Möslein, Mihai G Netea, Melissa L Norton, Peter J Oefner, William S Oetting, James C O'Leary, Ana Maria Oller Ramirez, Mark H Paalman, Jillian Parboosingh, George P Patrinos, Giuditta Perozzi, Ian R Phillips, Sue Povey, Suyash Prasad, Ming Qi, David J Quin, Rajkumar S Ramesar, Sue C Richards, Judith Savige, Dagmar G Scheible, Rodney J Scott, Daniela Seminara, Elizabeth A Shephard, Rolf H Sijmons, Timothy D Smith, Mar A­a-Jes Aºs Sobrido, Toshihiro Tanaka, Sean V Tavtigian, Graham R Taylor, Jon Teague, Thoralf Töpel, Mollie Ullman-Cullere, Joji Utsunomiya, Henk J Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K Weber, Meredith Yeager, Young I Yeom, Seon-Hee Yim and Hyang-Sook Yoo. Planning the Human Variome Project: The Spain report. Human Mutation 30(4):496–510, 2009. URL

  25. Johan T Dunnen, Rolf H Sijmons, Paal S Andersen, Mauno Vihinen, Jacques S Beckmann, Sandro Rossetti, Conover C Talbot, Ross C Hardison, Sue Povey and Richard G H Cotton. Sharing data between LSDBs and central repositories. Human Mutation 30(4):493–495, 2009. URL

  26. Richard G H Cotton, Aida Al I Aqeel, Fahd Al-Mulla, Paola Carrera, Mireille Claustres, Rosemary Ekong, Valentine J Hyland, Finlay A Macrae, Makia J Marafie, Mark H Paalman, George P Patrinos, Ming Qi, Rajkumar S Ramesar, Rodney J Scott, Rolf H Sijmons, Mar A­a-Jes Aºs Sobrido, Mauno Vihinen, Human Variome Project Data Collection Cl, Credit Publication and Incentives Working Gr. Capturing all disease-causing mutations for clinical and researchuse: Toward an effortless system for the Human Variome Project. Genetics in Medicine 11(12):843–84910.109, 2009. URL

  27. Richard G H Cotton. Collection of variation causing disease: The Human Variome Project. Human Genomics 3(4):301–303, 2009. URL

  28. Anthony J Brookes, Heikki Lehvaslaiho, Juha Muilu, Yasumasa Shigemoto, Takashige Oroguchi, Takeshi Tomiki, Atsuhiro Mukaiyama, Akihiko Konagaya, Toshio Kojima, Ituro Inoue, Masako Kuroda, Hiroshi Mizushima, Gudmundur A Thorisson, Debasis Dash, Haseena Rajeevan, Matthew W Darlison, Mark Woon, David Fredman, Albert V Smith, Martin Senger, Kimitoshi Naito and Hideaki Sugawara. The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation. Human Mutation 30(6):968–977, 2009. URL, DOI

  29. Martin Wildeman, Ernest Ophuizen, Johan T Dunnen and Peter E M Taschner. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Human Mutation 29(1):6–13, 2008. URL, DOI

  30. Sharon E Plon, Diana M Eccles, Douglas Easton, William D Foulkes, Maurizio Genuardi, Marc S Greenblatt, Frans B L Hogervorst, Nicoline Hoogerbrugge, Amanda B Spurdle and Sean V Tavtigian. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Human Mutation 29(11):1282–1291, 2008. URL, DOI

  31. M Olivier, A Petitjean, J Teague, S Forbes, J K Dunnick, J T Dunnen, A Langerod, J M Wilkinson, M Vihinen, R G H Cotton and P Hainaut. Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration. Human Mutation 30(3):275–282, 2008. URL, DOI

  32. The Editor. Human Variome Microattribution Reviews. Nature Genetics 40:1, 2008. URL, DOI

  33. Richard G H Cotton, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Samuel F Berkovic, Anthony J Brookes, John Burn, Garry Cutting, Johan T Dunnen, Paul Flicek, Nelson Freimer, Marc S Greenblatt, Heather J Howard, Michael Katz, Finlay A Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Rajkumar S Ramesar, Carolyn S Richards, Daniela Seminara, Timothy D Smith, Mar A­a-Jes Aºs Sobrido, Jan Helge Solbakk, Rudolph E Tanzi, Sean V Tavtigian, Graham R Taylor, Joji Utsunomiya and Michael Watson. The Human Variome Project. Science 322(5903):861–862, 2008. URL, DOI

  34. Richard G H Cotton and Lauren Hardman. Human Variome Project: progress and plans. Personalized Medicine 5(2):99–100, 2008. URL, DOI

  35. R G H Cotton, A D Auerbach, J S Beckmann, O O Blumenfeld, A J Brookes, A F Brown, P Carrera, D W Cox, B Gottlieb, M S Greenblatt, P Hilbert, H Lehvaslaiho, P Liang, S Marsh, D W Nebert, S Povey, S Rossetti, C R Scriver, M Summar, D R Tolan, I C Verma, M Vihinen and J T Dunnen. Recommendations for locus-specific databases and their curation. Human Mutation 29(1):2–5, 2008. URL, DOI

  36. Ourania Horaitis, Conover C Talbot, Manyphong Phommarinh, Kate M Phillips and Richard G H Cotton. A database of locus-specific databases. Nature Genetics 39(4):425–425, April 2007. URL

  37. Richard G H Cotton. Recommendations of the 2006 Human Variome Project meeting. Nature Genetics 39(4):433–436, April 2007. URL

  38. The Editor. What is the Human Variome Project?. Nature Genetics 39:423, 2007. URL, DOI

  39. The Editor. Compete, collaborate, compel. Nature Genetics 39:931, 2007. URL, DOI

  40. R G H Cotton, A D Auerbach, A F Brown, P Carrera, J Christodoulou, M Claustres, J Compton, D W Cox, De E Baere, J T Dunnen, M Greenblatt, M Fujiwara, P Hilbert, A Jani, H Lehvaslaiho, D W Nebert, I Verma and M Vihinen. A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Human Mutation 28(10):931–932, 2007. URL, DOI

  41. Huijun Z Ring, Pui-Yan Kwok and Richard GH Cotton. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics 7(7):969-972, 2006. URL, DOI

  42. The Editor. The germinating seed of Arab genomics. Nature Genetics 38:851, 2006. URL, DOI

  43. George P Patrinos and Anthony J Brookes. DNA, diseases and databases: disastrously deficient. Trends in Genetics 21(6):333 - 338, 2005. URL, DOI

  44. Richard G H Cotton, Clémentine Sallée and Bartha M Knoppers. Locus-Specific Databases: From Ethical Principles to Practice. Human Mutation 26(5):489–493, 2005. URL, DOI

  45. Richard G H Cotton and Haig H Kazazian. Toward a Human Variome Project. Human Mutation 26(6):499–499, 2005. URL

  46. Ourania Horaitis and Richard G H Cotton. The challenge of documenting mutation across the genome: The human genome variation society approach. Human Mutation 23(5):447–452, 2004. URL

  47. Johan Den T Dunnen, Stylianos E Antonarakis and others. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation 15(1):7–12, 2000. URL, DOI