biostudies-literatureRoberts HEHealth Innovation Challenge FundWellcome Trust6408https://www.ebi.ac.uk/biostudies/studies/S-EPMC7979876biostudies-literatureUnknown11(1)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 effects of tumour purity/subclonality. Here, we evaluate the extent to which Nanopore sequencing enables detection and analysis of somatic variation. We do this through sequencing tumour and germline genomes for a patient with diffuse B-cell lymphoma and comparing results with 150 bp short-read sequencing of the same samples. Calling germline single nucleotide variants (SNVs) from sScientific reportsShort and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.PMC7979876203141/Z/16/ZR6-388 / WT 100127Buck DLockstone HTaylor JCPagnamenta ATFreeman CSchuh AParkes DLopopolo MLonie LKnight SJLRoberts HESharma EBowden RLunter GDreau HfalseShort 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). Somatic variants are outnumbered many-fold by germline variants and their detection is further complicated by the effects of tumour purity/subclonality. Here, we evaluate the extent to which Nanopore sequencing enables detection and analysis of somatic variation. We do this through sequencing tumour and germline genomes for a patient with diffuse B-cell lymphoma and comparing results with 150 bp short-read sequencing of the same samples. Calling germline single nucleotide variants (SNVs) from s2021-01-01T00:00:00Z2021 Mar2026-06-04T16:42:22.979Z2024-11-08T21:47:42.674ZS-EPMC79798763374204510.1038/s41598-021-85354-8