Kimberley Billingsley from the National Institutes of Health in the USA spoke at London Calling 2025 on “Decoding the genomics of neurodegenerative diseases with large-scale, long-read sequencing.” This session was an update from the CARD Applied Neurogenomics group. Billingsley divided the session into three topics: long-read sequencing, methylation, and RNA sequencing. Billingsley emphasized that current […]
Sissel Juul, Vice President of Applications with Oxford Nanopore Technology and Sean McKenzie, Associate Director of Genomics Applications, provided the London Calling 2025 applications update. Juul explained that the applications team is global. Haplotype-resolved genetic variation detection and interpretation has been updated to use assembly approaches. However, assembly can be very challenging, especially with two […]
Tonight I watched the introduction to day 3 of the LISA workshop. Lauren Liu from Lawrence Berkeley Nation Laboratory spoke about how genomics research can be limited by incomplete genomes. They noted that “genomes are hypotheses about what microbes are doing… but with environmental sequencing we often don’t have complete genomes.” Liu explained that assembly […]
Tonight, I watched Qiliang (Andy) Ding from the Mayo Clinic present at the Nanopore Community Meeting in Boston. The session’s title was “Resolving structural configurations of DMD intragenic duplications through nanopore long-read sequencing.” Ding is a Laboratory Genomics Fellow. Ding noted that the DMD gene encodes dystrophin, an essential protein for muscle function. This gene is associated […]
We are going to use the Nanopore NO-MISS workflow. It will be used to sequence several microbial isolates. This is part of the Portable Genome Sequencing course. In preparation, this London Calling 2024 session seemed useful. Alex Trotter, Development Scientist, and Chris Alder, Bioinformatician, are both at Oxford Nanopore Technologies. They presented “How to sequence […]
Guillaume Cogan from the Paris Brain Institute in France and the National Institutes of Health in the US presented at London Calling 2024 on “Long-read sequencing to solve exome negative Parkinson’s disease.” Cogan explained that genetics and environmental susceptibility factors contribute to 90% of Parkinson’s disease in patients. However, 10% of patients have autosomal dominant […]
Tonight, I watched the London Calling 2024 session on “breaking boundaries in neurodegenerative disease research.” Cora Vacher from Oxford Nanopore Technologies (ONT) introduced the speakers and facilitated the question and answer session. Joanne Trinh from the Institute of Neurogenetics at the University of Lubeck in Germany was the first presenter. Trinh works with a research […]
Tonight, I watched the London Calling 2024 session “CoRAL accurately resolves extrachromosomal DNA structures with long-read sequencing.” Matthew Jones from Stanford University was the presenter and spoke about their toolkit to study extrachromosomal (ecDNA) oncogene (focal) amplifications. ecDNA seems to be large (100 kb-50 Mb) circular and highly rearranged. Jones noted it is also rapidly […]
Tonight, I watched the London Calling 2019 session “Ultra-long reads and ultra-long duplications: deciphering the mysteries of the Bordetella pertussis genome.” Natalie Ring from the University of Bath in the UK was the presenter. They spoke about whooping cough and how the introduction of vaccination in the 1950s reduced the number of reported cases. In […]
Tim Walker from the Technical Services Team with Oxford Nanopore Technologies presented the Nanopore Learning Course – Metagenomics lesson I watched tonight. They spoke about metagenomic classification techniques to identify organisms from sequence data and annotate genes. For targeted metagenomics, ITS, 16S, or antibiotic resistance genes can be amplified and sequenced. Whole genome sequencing can […]