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

As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence format...

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Bibliografiske detaljer
Main Authors:	Dalgleish, Raymond, Flicek, Paul, Cunningham, Fiona, Astashyn, Alex, Tully, Raymond E, Proctor, Glenn, Chen, Yuan, McLaren, William M, Larsson, Pontus, Vaughan, Brendan W, Béroud, Christophe, Dobson, Glen, Lehväslaiho, Heikki, Taschner, Peter EM, den Dunnen, Johan T, Devereau, Andrew, Birney, Ewan, Brookes, Anthony J, Maglott, Donna R
Format:	Artigo
Sprog:	Inglês
Udgivet:	BioMed Central 2010
Fag:	Correspondence
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC2873802/ https://ncbi.nlm.nih.gov/pubmed/20398331 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm145
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Locus Reference Genomic sequences: an improved basis for describing human DNA variants

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