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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...

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Detalles Bibliográficos
Autores principales: Konopka, Tomasz, Nijman, Sebastian M.B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
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