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BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity
BACKGROUND: Accurate genomic variant detection is an essential step in gleaning medically useful information from genome data. However, low concordance among variant-calling methods reduces confidence in the clinical validity of whole genome and exome sequence data, and confounds downstream analysis...
Autores principales: | Cantarel, Brandi L, Weaver, Daniel, McNeill, Nathan, Zhang, Jianhua, Mackey, Aaron J, Reese, Justin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999887/ https://www.ncbi.nlm.nih.gov/pubmed/24725768 http://dx.doi.org/10.1186/1471-2105-15-104 |
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