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Comparing the performance of selected variant callers using synthetic data and genome segmentation
BACKGROUND: High-throughput sequencing has rapidly become an essential part of precision cancer medicine. But validating results obtained from analyzing and interpreting genomic data remains a rate-limiting factor. The gold standard, of course, remains manual validation by expert panels, which is no...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245711/ https://www.ncbi.nlm.nih.gov/pubmed/30453880 http://dx.doi.org/10.1186/s12859-018-2440-7 |