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Calling Variants in the Clinic: Informed Variant Calling Decisions Based on Biological, Clinical, and Laboratory Variables

Deep sequencing genomic analysis is becoming increasingly common in clinical research and practice, enabling accurate identification of diagnostic, prognostic, and predictive determinants. Variant calling, distinguishing between true mutations and experimental errors, is a central task of genomic an...

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Detalles Bibliográficos
Autores principales: Bohannan, Zachary S., Mitrofanova, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482431/
https://www.ncbi.nlm.nih.gov/pubmed/31049166
http://dx.doi.org/10.1016/j.csbj.2019.04.002