Year: 2023

Ultra-rapid Nanopore Sequencing for Diagnosis

Tonight I watched John E. Gorzynski and Sneha D. Goenka from Stanford University present at London Calling 2022. Their fifteen-minute presentation entitled “Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing” was packed with information even though it was an informal session. This was an in-person session last year. Gorzynski is a postdoctoral scholar […]
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Differentially Methylated Regions and Acute Myeloid Leukemia

Alberto Magi from the University of Florence, Italy presented at London Calling 2022 a session called “Exploring the genomic and epigenomic landscape of acute myeloid leukemia with nanopore sequencing.” They spoke about the impact of acute myeloid leukemia and how they use patient samples to study this disease. They took three patient samples and timepoints […]
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Point-of-care Metagenomics with ONT

Tonight I watched Madjid Morsli from the Mediterranean Infection Foundation and & Aix-Marselle University in France present at London Calling 2022 on “Point-of-care, real-time, metagenomics-based pathogen genome detection of life-threatening community-acquired meningitis.” They spoke about infectious bacterial meningitis and how the genotype of the pathogen affects prognosis. Morsli noted that at least 200 pathogens have […]
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CyclomicsSeq

jeroen de Ridder from Cyclomics and the University Medical Center Utrecht in the Netherlands presented “CyclomicsSeq: targeted and genome-wide detection of circulating tumor DNA using nanopore consensus sequencing” at London Calling 2022. They spoke about monitoring of treatment response and disease recurrence and avoiding invasive procedures. For this, they focused on cell-free tumor DNA: cfDNA […]
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Full-length Human mtDNA Sequencing with Cas9 Enrichment and ONT

Ibo Gut from CNAG-CRG in Spain presented at London Calling 2022 a session entitled “Novel method for multiplexed, full-length single-molecule sequencing of human mitochondrial DNA using Cas9-mediated enrichment.” I don’t know much about Cas9-mediated enrichment and have been curious. Gut spoke about mitochondrial DNA and how the human mitochondrial (mtDNA) is circular, 16.6 kb, has […]
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Structural Variant Detection and Nanopore

“Comprehensive structural variant detection: from population to mosaic level” was the intriguing title for the session Fritz Sedlazeck from Baylor College of Medicine presented at London Calling 2022. Sedlazeck spoke about challenges of determining structure variants and their importance for learning about evolution, genomic disorders, their impact on regulation, and their impact on phenotypes. Sedlazeck […]
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CRISPR/Cas9 Targeted Enrichment and Whole Genome Sequencing for Personalized Medicine

Anna Dolnik from the Charite University Medicine Berlin in Germany presented at London Calling 2022 “Combined CRISPR/Cas9 targeted enrichment and whole-genome sequencing allows real-time stratification of acute myeloid leukemia (AML).” AML patient stratification, Dolnik explained, relies on identification of copy number and fusion transcripts. Dolnik mentioned they had presented on ONT-based AML systems before at […]
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