methylation

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Genome-wide Methylation Evaluation for Genetic Diagnosis

Miranda Galey from the University of Washington spoke at London Calling 2023 about “MeOW: genome-wide identification of differentially methylated regions using Oxford Nanopore long-read sequencing data.” Galey explained how long-read sequencing can shorten the time to diagnosis. The noted that methylated nucleotides have different current patterns that can be detected. The advantage of long-read sequencing […]
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Heterogeneity in Methylation Patterns

Tonight I watched the London Calling 2023 session entitled “Genome-wide single-molecule analysis of DNA methylation by nanopore sequencing reveals heterogeneous patterns” presented by Lyndsay Kerr from the University of Edinburgh in the UK. They spoke about the novel way of analyzing methylation patterns from single-molecule reads. Kerr explained that DNA methylation is a “repressive epigenetic […]
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Sharing Insights about Rare Disease Research with ONT

Tonight I watched a London Calling 2023 session that was the rare disease research panel Q&A. One question was about the importance of methylation in rare diseases. Panelists were speakers from other London Calling 2023 sessions. They noted that sample type is important, as tissue and peripheral blood may be very different in terms of […]
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Personalized OncoGenomics Program Trials using Long-Read Sequencing

Tonight I watched the London Calling 2023 session by Kieran O’Neil from Canada’s Michael Smith Genome Sciences Centre at BC Cancer, Canada. The session title is “The potential of nanopore sequencing for personalised genomics.” They have been supporting a Personalized OncoGenomics Program (POG) that has focused on short-read whole genomes and interested in long-read sequencing […]
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Cas9 Enrichment for KIR Haplotype Analysis

Tonight I watched the Nanopore Community Meeting 2021 session by Jesse Bruijnesteijn from the Biomedical Primate Research Center in the Netherlands. Their session was entitled “Rapid characterization of complex killer cell immunoglobulin-like receptor regions using Cas9 enrichment and nanopore sequencing.” They began by explaining the role of NK cell activation in recognizing inhibitory and activating […]
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ecDNA Sequencing and Assembly

Tonight, the IPERT summer workshops ended. Sissel Juul & Phill James presented at the Nanopore Community Meeting 2021 about “For want of a nail: investigating somatic and germline variations in cancer.” They are both at Oxford Nanopore Technologies in the Genomics Application Team. In 2021, they spoke about extrachromosomal DNA in cancer. Juul spoke about […]
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Different Cytosine Methylations and DeepSignal-plant

Feng Luo from Clemson University presented at the Nanopore Community Meeting 2021 about “Genome-wide detection of cytosine methylations in plants from nanopore data using deep learning.” They are faculty in computer science at Clemson. They spoke about detecting methylation from nanopore signals. They developed the DeepSignal tool. Nanopore has developed Megalodon, and there is also […]
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Genomic Technologies for STR Analysis

Ira Deveson from The Garvan Institute of Medical Research in Australia presented at the Nanopore Community Meeting 2021 on “Towards comprehensive genetic diagnosis of repeat expansion disorders with targeted nanopore sequencing.” Deveson spoke about the ReadUntil function also known as adaptive sampling to selectively sequence molecules. Short tandem repeats (STRs) are 2-12 bp sequence motifs […]
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A Quail Genome with Methylated Repeats

Elena Bolshakova from Herzen State Pedagogical University of Russia presented at the Nanopore Community Meeting 2021 on “DNA methylation analysis of a tandem repeat specific to Coturnix japonica using nanopore sequencing.” They mentioned that tandem repeats are poorly understood and yet important for the regulation of gene expression and chromosomal structure. Nanopore sequencing allows methylation […]
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Rapid-CNS2

Tonight I watched the Nanopore Community Meeting 2021 recording featuring Areeba Patel and titled “Rapid-CNS2: rapid, comprehensive adaptive nanopore sequencing of central nervous system (CNS) tumours.” Patel is at the German Cancer Research Center (DKFZ) and the University Hospital Heidelberg, Germany. Patel spoke about the use of molecular diagnostics for CNS tumors. They noted the […]
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