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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Bibliografske podrobnosti
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
Jezik:Inglês
Izdano: BioMed Central 2010
Teme:
Correspondence
Online dostop: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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