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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2010
Konular:
Correspondence
Online Erişim: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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