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Detection and visualization of complex structural variants from long reads

BACKGROUND: With applications in cancer, drug metabolism, and disease etiology, understanding structural variation in the human genome is critical in advancing the thrusts of individualized medicine. However, structural variants (SVs) remain challenging to detect with high sensitivity using short re...

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Detalles Bibliográficos
Autores principales: Stephens, Zachary, Wang, Chen, Iyer, Ravishankar K., Kocher, Jean-Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302372/
https://www.ncbi.nlm.nih.gov/pubmed/30577744
http://dx.doi.org/10.1186/s12859-018-2539-x

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