Literature DB >> 20960468

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Maija R J Kohonen-Corish1, Jumana Y Al-Aama, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R Cutting, Johan T den Dunnen, Marc S Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar, Sue Richards, Daniela Seminara, María-Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship, Richard G H Cotton.   

Abstract

The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access-Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access-Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease-specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium.
© 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20960468      PMCID: PMC3119486          DOI: 10.1002/humu.21379

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


  6 in total

1.  Report of the combined meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009.

Authors:  Maija Kohonen-Corish; Thomas K Weber; Annika Lindblom; Finlay Macrae
Journal:  Fam Cancer       Date:  2010-12       Impact factor: 2.375

2.  Recommendations for locus-specific databases and their curation.

Authors:  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; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

3.  Human Variome Project: an international collaboration to catalogue human genetic variation.

Authors:  Huijun Z Ring; Pui-Yan Kwok; Richard G H Cotton
Journal:  Pharmacogenomics       Date:  2006-10       Impact factor: 2.533

4.  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

5.  Recommendations of the 2006 Human Variome Project meeting.

Authors:  Richard G H Cotton; William Appelbe; Arleen D Auerbach; Kevin Becker; Walter Bodmer; D Joe Boone; Victor Boulyjenkov; Samir Brahmachari; Lawrence Brody; Anthony Brookes; Alastair F Brown; Peter Byers; Jose Maria Cantu; Jean-Jacques Cassiman; Mireille Claustres; Patrick Concannon; Richard G H Cotton; Johan T den Dunnen; Paul Flicek; Richard Gibbs; Judith Hall; Julia Hasler; Michael Katz; Pui-Yan Kwok; Sandrine Laradi; Annika Lindblom; Donna Maglott; Steven Marsh; Collen Muto Masimirembwa; Shinsei Minoshima; Ana Maria Oller de Ramirez; Roberta Pagon; Raj Ramesar; David Ravine; Sue Richards; David Rimoin; Huijun Z Ring; Charles R Scriver; Stephen Sherry; Nobuyoshi Shimizu; Lincoln Stein; Ghazi Omar Tadmouri; Graham Taylor; Michael Watson
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330

6.  Planning the human variome project: the Spain report.

Authors:  Jim Kaput; 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
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

  6 in total
  18 in total

1.  Mutation (variation) databases and registries: a rationale for coordination of efforts.

Authors:  Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry Cutting; Johan T den Dunnen; Mona El-Ruby; Aida Falcon Vargas; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Mauno Vihinen; Christine Van Broeckhoven
Journal:  Nat Rev Genet       Date:  2011-10-25       Impact factor: 53.242

2.  Human Variome Project Quality Assessment Criteria for Variation Databases.

Authors:  Mauno Vihinen; John M Hancock; Donna R Maglott; Melissa J Landrum; Gerard C P Schaafsma; Peter Taschner
Journal:  Hum Mutat       Date:  2016-03-21       Impact factor: 4.878

3.  Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

Authors:  Stephen F Kingsmore; Carol J Saunders
Journal:  Sci Transl Med       Date:  2011-06-15       Impact factor: 17.956

Review 4.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

5.  Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA).

Authors:  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 Hızel; Yasemin Yazan; Leela John; Emmanuelle Vaast; Adam S Ptolemy; Samer A Faraj; Eugene Kolker; Richard G H Cotton
Journal:  Curr Pharmacogenomics Person Med       Date:  2011-12-01

6.  Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

Authors:  Társis Paiva Vieira; Ilária Cristina Sgardioli; Vera Lúcia Gil-da-Silva-Lopes
Journal:  J Community Genet       Date:  2012-10-21

7.  [Research progress on antibacterial properties of porous medical implant materials].

Authors:  Yi Zhang; Xiangao Zhang; Zhongling Hu; Xingyu Ren; Qian Wang; Zhiqiang Wang
Journal:  Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi       Date:  2020-11-15

8.  VarioML framework for comprehensive variation data representation and exchange.

Authors:  Myles Byrne; Ivo Fac Fokkema; Owen Lancaster; Tomasz Adamusiak; Anni Ahonen-Bishopp; David Atlan; Christophe Béroud; Michael Cornell; Raymond Dalgleish; Andrew Devereau; George P Patrinos; Morris A Swertz; Peter Em Taschner; Gudmundur A Thorisson; Mauno Vihinen; Anthony J Brookes; Juha Muilu
Journal:  BMC Bioinformatics       Date:  2012-10-03       Impact factor: 3.169

9.  Human polymorphisms as clinical predictors in leprosy.

Authors:  Ernesto Prado Montes de Oca
Journal:  J Trop Med       Date:  2011-12-18

10.  Implementing the brazilian database on orofacial clefts.

Authors:  Isabella Lopes Monlleó; Marshall Ítalo Barros Fontes; Erlane Marques Ribeiro; Josiane de Souza; Gabriela Ferraz Leal; Têmis Maria Félix; Agnes Cristina Fett-Conte; Bruna Henrique Bueno; Luis Alberto Magna; Peter Anthony Mossey; Vera Gil-da Silva-Lopes
Journal:  Plast Surg Int       Date:  2013-03-12
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