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Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes

Haplotypes are often critical for the interpretation of genetic laboratory observations into medically actionable findings. Current massively parallel DNA sequencing technologies produce short sequence reads that are often unable to resolve haplotype information. Phasing short read data typically re...

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Detalles Bibliográficos
Autores principales: Ammar, Ron, Paton, Tara A., Torti, Dax, Shlien, Adam, Bader, Gary D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392832/
https://www.ncbi.nlm.nih.gov/pubmed/25901276
http://dx.doi.org/10.12688/f1000research.6037.2