The future of life science research lies in comprehensive genomic, epigenomic, and transcriptomic analyses. However,19 % of the human genome is inaccessible and 40% of all structural variants are missed by short-read sequencing [1,2] , <3% all CpG sites are covered by standard genotyping approaches [3] , all of those can now be addressed through the application of long, direct nanopore sequencing reads[4].

With nanopore sequencing, it is now possible to resolve previously hidden genomic regions and variants, generate telomere-to-telomere genome assemblies, explore base modifications, and perform isoform-level transcriptomics — all on a single platform.

The Oxford Nanopore Core Lab Programme and nanopore sequencing provides deeper insights, expands application portfolios, and helps accelerate all stages of sequencing process for core labs. This allows the research groups to accomplish cutting-edge research projects that was previously inaccessible.

On 13th December, we will be joined with Dr. Gyoungju Nah from Seoul National University, to share her research on leveraging nanopore sequencing for chromosome-Level genome assembly; and Dr. Ira Deveson from Garvan Institute who will share his research on the the landscape of genomic structural variation in Indigenous Australians.

Reference:

1. Ahsan, M.U., Liu, Q., Fang, L., and Wang, K. NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks. Genome Biol. 22, 261 (2021). DOI: https://doi.org/10.1186/s13059-021-02472-2
2. Flynn, R. et al. Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays. Human molecular genetics, 31(18), 3181–3190 (2022). DOI: https://doi.org/10.1093/hmg/ddac112
3. Beyter, D., et al. Long-read sequencing of 3,622 Icelan
4. Method of the Year 2022: long-read sequencing. Nat. Methods 20, 1 (2023). DOI: https://doi.org/10.1038/s41592-022-01759-x