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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Detalles Bibliográficos
Autores principales: 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
Lenguaje:Inglês
Publicado: BioMed Central 2010
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Correspondence
Acceso en línea: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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