genetics

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Long-read Sequencing and Structural Variants in Precision Oncology

“Accelerating precision oncology research with nanopore sequencing” is the name of the session I watched tonight. Anna Dysko, Associate Director of Business Development with Oxford Nanopore Technologies, facilitated the discussion on April 8, 2024. Dysko explained how nanopore sequencing works: DNA or RNA is passed through a nanopore thanks to the action of a motor […]
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Methylation Distribution and RNA Sequencing: Insights from Large-Scale Studies

I continued watching the ONT “Empowering comprehensive sequencing at scale” session. The next speaker in this session was Brynja Sigurpalsdottir who spoke about large-scale methylation studies. They spoke about how base calling is used to detect methylation. The team sequenced 7,179 whole blood samples sequenced on 8906 PromethION R9.4 flowcells! Twenty-two samples were sequenced on […]
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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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Improved Plant Genome Assembly with Ultra-Long Nanopore Sequencing

Bosheng Li from the Institute of Advanced Agricultural Sciences of Peking University in China presented at London Calling 2024. The session’s title was “Plant T2T genome assembly using ultra-long and adaptive nanopore sequencing.” They spoke about the importance of ultra-long reads. These reads produce N50 length >100 kb. These are crucial in the assembly of […]
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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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Long-Read Sequencing and Methylation Pattern Characterization in 1000 Genomes Project

Sophia Gibson from the University of Washington presented at London Calling 2024 on “Haplotype-resolved repeat expansions & methylation patterns in 1000 Genome Project data.” Gibson noted that clinical genetic testing typically requires multiple tests and clinic visits… and is diagnostic in fewer than 50% of cases. This is described as the “diagnostic odyssey.” Long-read sequencing […]
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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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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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