According to Areeba Patel, of the German Cancer Research Center (DKZF), the current technology for methylation classification takes approximately 22 days, partially caused by the requirement to batch samples to minimise analysis costs. Tumours of the central nervous system (CNS) are some of the most difficult to treat, with extensive morphological and molecular heterogeneity, as evidenced by the WHO 2021 classification criteria, which incorporates SNVs, CNVs, and methylation status. 22(11):1892-1897 (2020).Ĭase study Complete characterisation of targeted regions with adaptive sampling ‘long-read sequencing can improve the validation, resolution, and classification of germline SVs.’ Thibodeau et al. Nanopore sequencing revealed that, in three cases, an inverted duplication had been miscalled using short-read sequencing, and this had led to an incorrect pathogenic variant call. Long nanopore reads enabled confirmation of the suspected SVs and resolution of SVs that could not be delineated using short reads. The team performed nanopore sequencing on the PromethION for 13 samples for which short-read technology had proven ineffectual. investigated the utility of nanopore technology to resolve germline SVs in cancer risk genes. Recognising the limitations of short-read sequencing for SV detection, Thibodeau et al. However, our understanding of SVs has, until recently, been restricted to short-read technologies, which have limited facility to resolve these variants. Structural variants (SVs) are known to play an important role in cancer initiation, progression, and prognosis. Case study Comprehensive structural variation detection in tumour genomes
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