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An analytical framework for optimizing variant discovery from personal genomes

The standardization and performance testing of analysis tools is a prerequisite to widespread adoption of genome-wide sequencing, particularly in the clinic. However, performance testing is currently complicated by the paucity of standards and comparison metrics, as well as by the heterogeneity in s...

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Detalles Bibliográficos
Autores principales: Highnam, Gareth, Wang, Jason J., Kusler, Dean, Zook, Justin, Vijayan, Vinaya, Leibovich, Nir, Mittelman, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351570/
https://www.ncbi.nlm.nih.gov/pubmed/25711446
http://dx.doi.org/10.1038/ncomms7275