Literature DB >> 21904316

Clarity and claims in variation/mutation databasing.

Raymond Dalgleish, William S Oetting, Arleen D Auerbach, Jacques S Beckmann, Anne Cambon-Thomsen, Andrew Devereau, Marc S Greenblatt, George P Patrinos, Graham R Taylor, Mauno Vihinen, Anthony J Brookes.   

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Year:  2011        PMID: 21904316     DOI: 10.1038/nbt.1961

Source DB:  PubMed          Journal:  Nat Biotechnol        ISSN: 1087-0156            Impact factor:   54.908


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  15 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

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.  The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.

Authors:  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; Hideaki Sugawara
Journal:  Hum Mutat       Date:  2009-06       Impact factor: 4.878

4.  Genetics. 17q21.31: not your average genomic address.

Authors:  Elizabeth Pennisi
Journal:  Science       Date:  2008-11-07       Impact factor: 47.728

5.  Accreditation and attribution in data sharing.

Authors:  Gudmundur A Thorisson
Journal:  Nat Biotechnol       Date:  2009-11       Impact factor: 54.908

Review 6.  The human phenotype ontology.

Authors:  P N Robinson; S Mundlos
Journal:  Clin Genet       Date:  2010-02-11       Impact factor: 4.438

7.  WAVe: web analysis of the variome.

Authors:  Pedro Lopes; Raymond Dalgleish; José Luís Oliveira
Journal:  Hum Mutat       Date:  2011-04-07       Impact factor: 4.878

8.  Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Authors:  Raymond Dalgleish; Paul Flicek; Fiona Cunningham; Alex Astashyn; Raymond E Tully; Glenn Proctor; Yuan Chen; William M McLaren; Pontus Larsson; Brendan W Vaughan; Christophe Béroud; Glen Dobson; Heikki Lehväslaiho; Peter Em Taschner; Johan T den Dunnen; Andrew Devereau; Ewan Birney; Anthony J Brookes; Donna R Maglott
Journal:  Genome Med       Date:  2010-04-15       Impact factor: 11.117

9.  genenames.org: the HGNC resources in 2011.

Authors:  Ruth L Seal; Susan M Gordon; Michael J Lush; Mathew W Wright; Elspeth A Bruford
Journal:  Nucleic Acids Res       Date:  2010-10-06       Impact factor: 16.971

10.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

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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