Month: July 2024

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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Joint Fragmentomic and Methylation Signatures of cfDNA for Cancer Detection by Billy Lau at London Calling 2024

Billy Lau from Stanford University returned to London Calling 2024 and spoke about “Joint fragmentomic and methylation signatures of cfDNA for cancer detection.” They began by defining liquid biopsies for non-invasive cancer measurement as typically being blood draws used for sequencing and multi-omic analyses. They also explained how epigenetic reprogramming in cancer occurs and how […]
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Enhancing Rare Disease Understanding with Combined RNAseq and Long-read Sequencing

Tjakko van Ham from the Erasmus University Medical Center in the Netherlands presented at London Calling 2024. The session was titled “Combined RNAseq and long-read sequencing for unsolved cases.” They began by describing how, in a diagnostic lab, exome sequencing is typically used. However, copy number variants, sequence variants, and non-coding variants may be challenging […]
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Fusion and Methylation Detection for Pediatric Tumors

Mathilde Filser from the Curie Institute in France spoke about “Simultaneous methylation and fusion detection for pediatric tumor characterization” at London Calling 2024. They explained that neuro-oncology includes many entities and DNA methylation has an “undeniable impact.” The gold standard is the Illumina EPIC array. The lab developed a workflow for frozen brain tumor samples. […]
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Real-time Genomic Characterization of Pediatric Acute Leukemia with Adaptive Sampling

Julie Geyer from The University of North Carolina at Chapel Hill presented at London Calling 2024 on “Real-time genomic characterization of pediatric acute leukemia using adaptive sampling. They explained that leukemia can be acute myeloid leukemia or acute lymphoblastic leukemia. The presence of immature cells is typically performed with karyotype analysis, fluorescence in-situ hybridization (FISH), […]
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Nanopore Sequencing for Clinical Labs: Case Studies from New Zealand

Tonight, I watched Rhys White from the Institute of Environmental Science and Research in New Zealand present “Real-time genomic surveillance with nanopore sequencing.” They have started a collaboration with the Wellington Regional Hospital. The goal was to make Nanopore sequencing accessible to the clinical lab. The team used a MinION device to sequence blood and […]
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Rady Children’s Institute: Discoveries in Genomic Methylation

Sergey Batalov from the Rady Children’s Institute for Genomic Medicine in the US presented at London Calling 2024 on “Patterns in genomic methylation determined with long-read sequencing.” Rady Children’s Institute is the only level four NICU in San Diego, Riverside, and Imperial counties. The Rady Children’s Hospital provides care to 256,000 kids/year! However, only 35% […]
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Detecting RNA Modifications with Nanopore Devices and IVT Reference Method

Logan Mulroney from the EMBL-EBI & Center for Genomic Science at the Italian Institute of Technology in Italy presented at London Calling 2024 “A survey of human RNA modifications by direct RNA nanopore sequencing.” Mulroney described RNA modifications as “chemical alterations to canonical nucleotides” and mentioned that they have been implicated in diseases such as […]
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