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Comparison of genetic variants in matched samples using thesaurus annotation
Motivation: Calling changes in DNA, e.g. as a result of somatic events in cancer, requires analysis of multiple matched sequenced samples. Events in low-mappability regions of the human genome are difficult to encode in variant call files and have been under-reported as a result. However, they can b...
Autores principales: | Konopka, Tomasz, Nijman, Sebastian M.B. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795618/ https://www.ncbi.nlm.nih.gov/pubmed/26545822 http://dx.doi.org/10.1093/bioinformatics/btv654 |
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