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Understanding Human Variation and Cancer Genomics via EPI2ME

I started watching a core webinar from Oxford Nanopore Technologies (ONT) tonight. Nick Sisneros from ONT facilitated the presentation. The topic was scalable human genomic characterization with nanopore. The first presentation was by Philipp Rescheneder, Senior Director of Applications Bioinformatics at ONT. They described three end-to-end workflows using EPI2ME: the human variation, cancer genomics, and […]
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Genomics England and ONT

I continued watching a longer session from Oxford Nanopore Technologies (ONT) summer programming tonight. “The era of complete genomes, at any scale” was the title of a session Cora Vaher gave. They talked about how methylation can be detected without additional library preparation. Haplotype-specific methylation could be very useful in learning about genetic diseases. Vaher shared a […]
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Unlocking Genomic Frontiers: ONT’s Long-Read Sequencing Breakthroughs

Tonight I started watching a longer session from Oxford Nanopore Technologies (ONT) summer programming. “The era of complete genomes, at any scale” was the title of a session Cora Vaher gave. They described how long-read sequencing with ONT has changed sequencing. Vaher stated that “the era of full genomes is coming” because there are many […]
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Ultra-Rapid, Long-Read Whole-Genome Sequencing with BadgerSeq

Stephen Meyn from the Center for Human Genomics and Precision Medicine at the University of Wisconsin-Madison presented at London Calling 2024. The session title was “BadgerSeq: a deecentralized model for ultra-rapid, long-read, whole-genome sequencing.” Meyn spoke about rare genetic disorders in the NICU and the importance of diagnosis. Meyn emphasized the need for speed and […]
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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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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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High-Quality Genome Assembly Tools by Oxford Nanopore

We often use Oxford nanopore reads for de novo assembly of genomes and plasmids. Sean Mckenzie, Associate Director of Genomic Applications Bioinformatics with Oxford Nanopore Technologies, provided an update on assembly performance. They described de novo assembly as “the process of reconstructing an organism’s genome sequence from a set of genomic sequencing reads.” There are […]
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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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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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From Troubleshooting to Streamlining

What a weekend! I am back from the NSF ENCOUR conference. I continued watching studio interviews from London Calling 2024. Tonight, the session I watched focused on pathogen surveillance and community and collaboration. Amanda Warr from The Roslin Institute spoke about learning to use Oxford Nanopore Technologies (ONT) with metagenomic samples and troubleshooting in the […]
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