Literature DB >> 15977173

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Ivo F A C Fokkema1, Johan T den Dunnen, Peter E M Taschner.   

Abstract

The completion of the human genome project has initiated, as well as provided the basis for, the collection and study of all sequence variation between individuals. Direct access to up-to-date information on sequence variation is currently provided most efficiently through web-based, gene-centered, locus-specific databases (LSDBs). We have developed the Leiden Open (source) Variation Database (LOVD) software approaching the "LSDB-in-a-Box" idea for the easy creation and maintenance of a fully web-based gene sequence variation database. LOVD is platform-independent and uses PHP and MySQL open source software only. The basic gene-centered and modular design of the database follows the recommendations of the Human Genome Variation Society (HGVS) and focuses on the collection and display of DNA sequence variations. With minimal effort, the LOVD platform is extendable with clinical data. The open set-up should both facilitate and promote functional extension with scripts written by the community. The LOVD software is freely available from the Leiden Muscular Dystrophy pages (www.DMD.nl/LOVD/). To promote the use of LOVD, we currently offer curators the possibility to set up an LSDB on our Leiden server. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID: 15977173     DOI: 10.1002/humu.20201

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


  92 in total

1.  Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Authors:  Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul-Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

2.  Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Authors:  Belinda Giardine; Joseph Borg; Douglas R Higgs; Kenneth R Peterson; Sjaak Philipsen; Donna Maglott; Belinda K Singleton; David J Anstee; A Nazli Basak; Barnaby Clark; Flavia C Costa; Paula Faustino; Halyna Fedosyuk; Alex E Felice; Alain Francina; Renzo Galanello; Monica V E Gallivan; Marianthi Georgitsi; Richard J Gibbons; Piero C Giordano; Cornelis L Harteveld; James D Hoyer; Martin Jarvis; Philippe Joly; Emmanuel Kanavakis; Panagoula Kollia; Stephan Menzel; Webb Miller; Kamran Moradkhani; John Old; Adamantia Papachatzopoulou; Manoussos N Papadakis; Petros Papadopoulos; Sonja Pavlovic; Lucia Perseu; Milena Radmilovic; Cathy Riemer; Stefania Satta; Iris Schrijver; Maja Stojiljkovic; Swee Lay Thein; Jan Traeger-Synodinos; Ray Tully; Takahito Wada; John S Waye; Claudia Wiemann; Branka Zukic; David H K Chui; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nat Genet       Date:  2011-03-20       Impact factor: 38.330

3.  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

4.  The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Authors:  Ming-Hui Wei; Patrick W Blake; Julia Shevchenko; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

5.  Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.

Authors:  Yingyin Liang; Songlin Chen; Jianzong Zhu; Xiangxue Zhou; Chen Yang; Lu Yao; Cheng Zhang
Journal:  Bosn J Basic Med Sci       Date:  2015-05-20       Impact factor: 3.363

6.  The case for locus-specific databases.

Authors:  Mark E Samuels; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2011-05-04       Impact factor: 53.242

7.  Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Authors:  Andrea Zatkova; Tatiana Sedlackova; Jan Radvansky; Helena Polakova; Martina Nemethova; Robert Aquaron; Ismail Dursun; Jeannette L Usher; Ludevit Kadasi
Journal:  JIMD Rep       Date:  2011-10-20

8.  An unusual case of familial adenomatous polyposis with very early symptom occurrence.

Authors:  Maurizio Ponz de Leon; Maria Anastasia Bianchini; Luca Reggiani-Bonetti; Monica Pedroni; Carmela Di Gregorio; Alberto Merighi; Giuseppina Rossi; Giulia Magnani; Federica Domati; Alfredo Cacciari
Journal:  Fam Cancer       Date:  2014-09       Impact factor: 2.375

9.  A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.

Authors:  Jennifer Danzig; Michael A Levine
Journal:  J Pediatr Endocrinol Metab       Date:  2012       Impact factor: 1.634

10.  GENETICS. The Human Variome Project.

Authors:  Richard G H Cotton; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Samuel F Berkovic; Anthony J Brookes; John Burn; Garry Cutting; Johan T den 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; María-Jesús Sobrido; Jan Helge Solbakk; Rudolph E Tanzi; Sean V Tavtigian; Graham R Taylor; Joji Utsunomiya; Michael Watson
Journal:  Science       Date:  2008-11-07       Impact factor: 47.728

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