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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...

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Detalles Bibliográficos
Autores principales: Bian, Xiaopeng, Zhu, Bin, Wang, Mingyi, Hu, Ying, Chen, Qingrong, Nguyen, Cu, Hicks, Belynda, Meerzaman, Daoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
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