|
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, Donna R Maglott Genome Medicine 2010, 2:24 (15 April 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
|
Editor’s summary
The Locus Reference Genomic sequence format provides a single record containing a reference DNA sequence and all relevant transcripts and protein sequences, which should reduce errors in reporting and lead to improved communication about variants involved in disease.
|