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DeepSom: a CNN-based approach to somatic variant calling in WGS samples without a matched normal
MOTIVATION: Somatic mutations are usually called by analyzing the DNA sequence of a tumor sample in conjunction with a matched normal. However, a matched normal is not always available, for instance, in retrospective analysis or diagnostic settings. For such cases, tumor-only somatic variant calling...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843587/ https://www.ncbi.nlm.nih.gov/pubmed/36637201 http://dx.doi.org/10.1093/bioinformatics/btac828 |