Genome Medicine


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

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 and Donna R Maglott

Genome Medicine 2010, 2:24 doi:10.1186/gm145

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UASIS: Universal Automatic SNP Identification System

Danny C C Poo, Shaojiang Cai, James T L Mah BMC Genomics 2011, 12(Suppl 3):S9 (30 November 2011)

Research   Open Access

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Jeroen F J Laros, André Blavier, Johan T den Dunnen, Peter E M Taschner BMC Bioinformatics 2011, 12(Suppl 4):S5 (5 July 2011)