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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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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 |