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From Days to Hours: Reporting Clinically Actionable Variants from Whole Genome Sequencing

As the cost of whole genome sequencing (WGS) decreases, clinical laboratories will be looking at broadly adopting this technology to screen for variants of clinical significance. To fully leverage this technology in a clinical setting, results need to be reported quickly, as the turnaround rate coul...

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Detalles Bibliográficos
Autores principales: Middha, Sumit, Baheti, Saurabh, Hart, Steven N., Kocher, Jean-Pierre A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914798/
https://www.ncbi.nlm.nih.gov/pubmed/24505267
http://dx.doi.org/10.1371/journal.pone.0086803