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Detection of Somatic Mutations in Exome Sequencing of Tumor-only Samples

Due to lack of normal samples in clinical diagnosis and to reduce costs, detection of small-scale mutations from tumor-only samples is required but remains relatively unexplored. We developed an algorithm (GATKcan) augmenting GATK with two statistics and machine learning to detect mutations in cance...

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Detalles Bibliográficos
Autores principales: Hsu, Yu-Chin, Hsiao, Yu-Ting, Kao, Tzu-Yuan, Chang, Jan-Gowth, Shieh, Grace S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698426/
https://www.ncbi.nlm.nih.gov/pubmed/29162841
http://dx.doi.org/10.1038/s41598-017-14896-7