Oxford Nanopore Technologies

Uncovering Vaccine Resistance: Genome Sequencing of 198 UK Bordetella Pertussis Strains

Sarah Cameron from the University of Bath presented at London Calling 2024 a short session with the title “100 years of Bordetella pertussis evolution in the UK.” They noted that we have had a vaccine for Bordetella for decades and it changed to an acellular version in 2001. The genome of this organism varies through […]
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Genomic Studies of Adeno-Associated Virus Hepatitis: 2022 Pediatric Outbreak and Gene Therapy Effects

Oscar Enrique Torres Montaguth from the University College London in the UK presented a short talk at London Calling. The title was “Genomic studies of adeno-associated virus hepatitis.” They studied the 2022 pediatric hepatitis outbreak using metagenomic sequencing approaches. They identified AAV2 in liver and blood samples of almost all cases, and adenoviruses and herpesviruses […]
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CoRAL Toolkit: Studying Extrachromosomal DNA for Cancer Research

Matthew Jones from Stanford University presented at London Calling 2024 a session titled “CoRAL accurately resolves extrachromosomal DNA structures with long-read sequencing.” This toolkit can be used to study extrachromosomal or ecDNA, a form of oncogene amplification in cancers. ecDNA is not found in normal cells, is associated with shorter patient survival, and is large: […]
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Long-read Sequencing Unveils Parkinson’s Disease Genetic Variants

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 […]
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Insights into Medicinal Plant Metabolites

I am preparing to go to Seattle tomorrow to visit the Allen Institute again! Tonight I watched Ronja Friedhoff from the Technische Universitat Braunschweig in Germany present at London Calling 2024. The title of the session is “Accessing the biosynthetic gene repertoire of medicinal plants.” Friedhoff started by asking, “What secrets are hidden in plant […]
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Uncovering Novel Peptides and Mutations: Transcriptomic Analysis of Human Cortex

We are back from the beach! Tonight, I watched Rosemary Bamford from the University of Exeter in the UK present at London Calling 2024 on “Full-length transcript atlas of the developing human cortex.” Bamford is from the Complex Disease Epigenomics Group, and they study disease-associated genomic variation. Bamford explained alternative splicing as a way of […]
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Investigating RNA Isoform Diversity in Colorectal Cancer at Single-Cell Level

Ping Lu from Peking University in China presented at London Calling 2024 on “Full-length RNA isoforms in human colorectal cancer at single-cell resolution.” Lu said colorectal cancer is the third most common cancer worldwide and the second leading cause of cancer death! Lu also mentioned that single-cell resolution is now necessary to better understand the […]
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Epigenetic Research on Methylation Patterns in Human Brain Samples

Darren Soanes from the University of Exeter in the UK spoke at London Calling about “DNA modifications in specific nuclei populations purified from human brain tissue.” Soanes is in the Complex Epigenetics Group at Exeter. They study cytosine modifications 5mC and 5hmC. The group has completed studies on methylation patterns in brain samples. Soanes noted […]
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Unraveling FSHD with Nanopore Sequencing

Morghan Lucas from the Medical Genetics Center in Germany presented at London Calling 2024 on “Genetic and epigenetic profiling of FSHD by nanopore sequencing.” Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease affecting the muscles of the face, shoulders, and upper/lower limbs, Lucas explained. It is the third most common muscular dystrophy: 1:20,000. The […]
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Long-Read RNA Sequencing for Retina Transcript Isoform Identification

Rui Chen from Baylor College of Medicine presented at London Calling 2024 a session titled “Single-cell characterization of transcript isoforms with long-read RNA sequencing.” Their lab is interested in the retina since it is “the main target of irreversible blinding diseases.” In mice, there are over one hundred cell subtypes in the retina, noted Chen. […]
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