Literature DB >> 19306394

Planning the human variome project: the Spain report.

Jim Kaput1, Richard G H Cotton, Lauren Hardman, Michael Watson, Aida I Al 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 Blöcker, 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 den Dunnen, Carlos Díaz, Steven Dobrowolski, M Rosário N dos 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 de 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, C Sue Richards, Judith Savige, Dagmar G Scheible, Rodney J Scott, Daniela Seminara, Elizabeth A Shephard, Rolf H Sijmons, Timothy D Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V Tavtigian, Graham R Taylor, Jon Teague, Thoralf Töpel, Mollie Ullman-Cullere, Joji Utsunomiya, Henk J van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K Weber, Meredith Yeager, Young I Yeom, Seon-Hee Yim, Hyang-Sook Yoo.   

Abstract

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008. (c) 2009 Wiley-Liss, Inc.

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Year:  2009        PMID: 19306394      PMCID: PMC5879779          DOI: 10.1002/humu.20972

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  101 in total

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4.  Prediction and assessment of splicing alterations: implications for clinical testing.

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5.  Diet and the evolution of human amylase gene copy number variation.

Authors:  George H Perry; Nathaniel J Dominy; Katrina G Claw; Arthur S Lee; Heike Fiegler; Richard Redon; John Werner; Fernando A Villanea; Joanna L Mountain; Rajeev Misra; Nigel P Carter; Charles Lee; Anne C Stone
Journal:  Nat Genet       Date:  2007-09-09       Impact factor: 38.330

Review 6.  Review article: lactose intolerance in clinical practice--myths and realities.

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Review 7.  Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

Authors:  Jianghua Ou; Renée C Niessen; Anne Lützen; Rolf H Sijmons; Jan H Kleibeuker; Niels de Wind; Lene Juel Rasmussen; Robert M W Hofstra
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8.  International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.

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9.  The diploid genome sequence of an individual human.

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Authors:  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; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

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  25 in total

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Journal:  Neurogenetics       Date:  2011-06-01       Impact factor: 2.660

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Review 4.  Interindividual variation in epigenomic phenomena in humans.

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5.  A strategy for analyzing gene-nutrient interactions in type 2 diabetes.

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Review 6.  A primer on metagenomics.

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8.  Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.

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Journal:  DNA Res       Date:  2010-04-01       Impact factor: 4.458

9.  Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Authors:  Sue Povey; Aida I Al Aqeel; Anne Cambon-Thomsen; Raymond Dalgleish; Johan T den Dunnen; Helen V Firth; Marc S Greenblatt; Carol Isaacson Barash; Michael Parker; George P Patrinos; Judith Savige; Maria-Jesus Sobrido; Ingrid Winship; Richard G H Cotton
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

10.  Ensembl's 10th year.

Authors:  Paul Flicek; Bronwen L Aken; Benoit Ballester; Kathryn Beal; Eugene Bragin; Simon Brent; Yuan Chen; Peter Clapham; Guy Coates; Susan Fairley; Stephen Fitzgerald; Julio Fernandez-Banet; Leo Gordon; Stefan Gräf; Syed Haider; Martin Hammond; Kerstin Howe; Andrew Jenkinson; Nathan Johnson; Andreas Kähäri; Damian Keefe; Stephen Keenan; Rhoda Kinsella; Felix Kokocinski; Gautier Koscielny; Eugene Kulesha; Daniel Lawson; Ian Longden; Tim Massingham; William McLaren; Karine Megy; Bert Overduin; Bethan Pritchard; Daniel Rios; Magali Ruffier; Michael Schuster; Guy Slater; Damian Smedley; Giulietta Spudich; Y Amy Tang; Stephen Trevanion; Albert Vilella; Jan Vogel; Simon White; Steven P Wilder; Amonida Zadissa; Ewan Birney; Fiona Cunningham; Ian Dunham; Richard Durbin; Xosé M Fernández-Suarez; Javier Herrero; Tim J P Hubbard; Anne Parker; Glenn Proctor; James Smith; Stephen M J Searle
Journal:  Nucleic Acids Res       Date:  2009-11-11       Impact factor: 16.971

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