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Detecting large deletions at base pair level by combining split read and paired read data

BACKGROUND: Genomic structural variants (SV) play a significant role in the onset and progression of cancer. Genomic deletions can create oncogenic fusion genes or cause the loss of tumor suppressing gene function which can lead to tumorigenesis by downregulating these genes. Detecting these variant...

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Detalles Bibliográficos
Autores principales: Hayes, Matthew, Pearson, Jeremy S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657039/
https://www.ncbi.nlm.nih.gov/pubmed/29072143
http://dx.doi.org/10.1186/s12859-017-1829-z