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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...
Autores principales: | Stephens, Zachary, Wang, Chen, Iyer, Ravishankar K., Kocher, Jean-Pierre |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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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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