Literature DB >> 15922832

DNA, diseases and databases: disastrously deficient.

George P Patrinos1, Anthony J Brookes.   

Abstract

Recent progress in disease genetics and genome-related medicine has been substantial, with vast amounts of data being generated. However, this progress has not been matched by adequate database projects that gather and organize these data to enable their useful exploitation. This research area is complex, entailing core databases, locus-specific databases, national mutation databases, genotype-phenotype databases and patient databases--and much work is required to develop and properly integrate these various resources. To promote this, we present a timely overview of the field, emphasize its over-riding importance and discuss the disastrously deficient progress made so far. Many factors contribute to this slow progress (e.g. technological hurdles, publication requirements, the short-sighted and popularist research system). A lack of targeted funding is arguably the most fundamental problem, but one that can be solved.

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Year:  2005        PMID: 15922832     DOI: 10.1016/j.tig.2005.04.004

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  14 in total

1.  Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

Authors:  John-Paul Plazzer; Johan T den Dunnen; Timothy Smith; Finlay Macrae; Richard G Cotton
Journal:  Clin Biochem Rev       Date:  2012-02

Review 2.  New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.

Authors:  Paul N Schofield; John P Sundberg; Robert Hoehndorf; Georgios V Gkoutos
Journal:  Brief Funct Genomics       Date:  2011-09       Impact factor: 4.241

3.  A survey of locus-specific database curation. Human Genome Variation Society.

Authors:  Richard G H Cotton; Kate Phillips; Ourania Horaitis
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

Review 4.  Phenotype ontologies for mouse and man: bridging the semantic gap.

Authors:  Paul N Schofield; Georgios V Gkoutos; Michael Gruenberger; John P Sundberg; John M Hancock
Journal:  Dis Model Mech       Date:  2010 May-Jun       Impact factor: 5.758

5.  Annotating DNA variants is the next major goal for human genetics.

Authors:  Garry R Cutting
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

6.  A new scientific journal linked to a genetic database: towards a novel publication modality.

Authors:  George P Patrinos; Emanuel F Petricoin
Journal:  Hum Genomics Proteomics       Date:  2008-11-17

7.  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

8.  ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.

Authors:  Sjozef van Baal; Joël Zlotogora; George Lagoumintzis; Vassiliki Gkantouna; Ioannis Tzimas; Konstantinos Poulas; Athanassios Tsakalidis; Giovanni Romeo; George P Patrinos
Journal:  Hum Genomics       Date:  2010-06       Impact factor: 4.639

9.  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

10.  FINDbase: a worldwide database for genetic variation allele frequencies updated.

Authors:  Marianthi Georgitsi; Emmanouil Viennas; Dimitris I Antoniou; Vassiliki Gkantouna; Sjozef van Baal; Emanuel F Petricoin; Konstantinos Poulas; Giannis Tzimas; George P Patrinos
Journal:  Nucleic Acids Res       Date:  2010-11-27       Impact factor: 16.971

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