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Article

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

Scientific reports - 19 Mar 2021

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

Abstract excerpt

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). Somatic variants are outnumbered many-fold by germline variants and their detection is further complicated by the...

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Share to Chromosomes, Human
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, p53

Share to Germ Cells

Share to Lymphoma, Large B-Cell, Diffuse

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Identifiers

PMID: 33742045
DOI: 10.1038/s41598-021-85354-8
PMCID: PMC7979876

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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