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Medical genomics: The intricate path from genetic variant identification to clinical interpretation

The field of medical genomics involves translating high throughput genetic methods to the clinic, in order to improve diagnostic efficiency and treatment decision making. Technical questions related to sample enrichment, sequencing methodologies and variant identification and calling algorithms, sti...

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Detalles Bibliográficos
Autores principales: Quintáns, B., Ordóñez-Ugalde, A., Cacheiro, P., Carracedo, A., Sobrido, M.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887840/
https://www.ncbi.nlm.nih.gov/pubmed/27284505
http://dx.doi.org/10.1016/j.atg.2014.06.001