Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing. Much of the validation of bioinformatic tools for this long-read data has focussed on calling germline variants (including structural variants)....

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Publicat a:Sci Rep
Autors principals: Roberts, Hannah E., Lopopolo, Maria, Pagnamenta, Alistair T., Sharma, Eshita, Parkes, Duncan, Lonie, Lorne, Freeman, Colin, Knight, Samantha J. L., Lunter, Gerton, Dreau, Helene, Lockstone, Helen, Taylor, Jenny C., Schuh, Anna, Bowden, Rory, Buck, David
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2021
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7979876/
https://ncbi.nlm.nih.gov/pubmed/33742045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-85354-8
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