adaptive sampling

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Unveiling the Elusive Nature of SCA4: Adaptive Sampling Reveals Pathogenic Repeat Expansion

Claire Anderson from the University College London in the UK presented at London Calling a short session on “Adaptive sampling reveals pathogenic repeat expansion underlying spinocerebellar ataxia.” Spinocerebellar Ataxia Type 4 (SCA4) is an autosomal dominant hereditary ataxia characterized by sensory neuropathy, explained Anderson. The locus has been linked to chromosome sixteen. Anderson and their […]
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Uncovering ‘Dark’ Genomic Regions with Nanopore Sequencing – Mayo Clinic Insights

Devin Oglesbee from the Mayo Clinic spoke about “Nanopore sequencing medically relevant ‘dark’ genomic regions” at London Calling 2024. The Mayo Clinic has several locations and is interested in learning about dark/camouflaged genomic regions that are “not being met in the clinical laboratory.” Oglesbee spoke about the difference between “dark by depth” and “dark by […]
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Discovering Deeply Intronic Mutations with Nanopore Sequencing

Tom Walsh from the University of Washington in the USA spoke at London Calling about “Discovery of deeply intronic damaging mutations with nanopore sequencing.” Walsh explained that in the 1990s, genetic testing for predisposition to breast cancer began. In the 200s, additional cancer-risk genes were discovered. Now, there are numerous panels and ten genes for […]
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Blood Group Genome Targeted Sequencing for Precision Typing | London Calling 2024

Morgan Gueuning from the Blood Transfusion Service in Switzerland presented at London Calling 2024 on “Targeted sequencing of the entire blood group genome by adaptive sampling.” They noted that there are over 45 blood group systems coded by fifty genes and with over 350 antigens. Precise typing and matching are essential to minimize alloimmunization. Current […]
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The Significance of Long Reads in Determining Intronic Mutations

Today, I watched another London Calling 2024 studio interview. Zoe McDougall interviewed three speakers. Tom Walsh from the University of Washington spoke about how long reads are important to determine intronic mutations. The full locus of BRCA1 is over 100 kb, and intronic mutations can occur with significant implications. Mike Clark from the University of […]
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Pharmacogenomics in the Era of Long-read Sequencing and Adaptive Sampling

Koen Deserranno from Ghent University in Belgium presented a lightning talk at London Calling 2023. The title was “Advancing targeted haplotyping in pharmacogenomics using adaptive sampling.” For example, they explained that pharmacogenomics studies the genetic impact on drug efficiency. There is a need for long-read sequencing for some pharco genes. The current pharmacogenomics information, Deserranno […]
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SISPA, SASA, and Identification of Avian Influenza

Maria Chaves from Iowa State University presented at the Nanopore Community Meeting in Houston on “Enrichment strategies for recovery of Avian influenza virus from samples using MinION.” They spoke about the current highly pathogenic avian influenza (HPAI) outbreak and the importance of timely identification and characterization. Avian influenza is a huge problem for the poultry […]
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Examining Inherited Retinal Diseases with ONT

Debarshi Mustafi from the University of Washington presented at the Nanopore Community Meeting in Houston on “Complex phased variants in inherited retinal diseases with long-read sequencing.” Mustafi talked about the thin layer of tissue forming the retina. They are interested in inherited retinal diseases (IRDs). For a long time, people thought these were auto-immunity-related diseases. […]
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Ten Applications of Nanopore Technologies in Thailand

Thidathip Wongsurawat from the Siriraj Long-read Lab in the Mahidol University in Thailand, presented at the Nanopore Community Meeting in Singapore on “Ten case studies on the recent applications of nanopore sequencing in Thailand.” Number ten was nCNV-seq: Nanopore-based multiple copy number variation analyses. They developed the open access bioinformatics tool. Wongsurawat also spoke about […]
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