Article

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

2020-03-25

Abstract excerpt

Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies (ONT) 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). Somatic variants are outnumbered many-fold by germline variants and their detection is further complicated by...

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Literature Corpus work: d28f95d3-b85a-5c55-a9cd-027ab58c4e73
DOI: 10.1101/2020.03.24.999870

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