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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Correspondence
Acesso em linha: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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