sequencing

Identifying Complex Structural Variation with Nanopore Long-read Sequencing

“Long-read sequencing resolves cryptic structural variation in individuals with syndromic intellectual disability” was the title of the presentation Griet De Clercq from Ghent University in Belgium gave at the Nanopore Community Meeting 2022. De Clercq noted that “40% of people with intellectual disability (ID) remain without genetic diagnosis” and that current diagnostic tests used in […]
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Sequencing of HCV for Identification of Resistance Mutations

Kame A. Galan-Huerta from the Autonomous University of Nuevo Leon in Mexico presented at the Nanopore Community Meeting 2022 a ten minute session entitled “Identification of resistance mutations to direct-acting antiviral agents against HCV in infected subjects in Mexico.” They spoke about adapting protocols to detect the RNA positive sense hepatitis C virus. Glan-Huerta explained […]
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Tilapia, ISKNV, and Tiled PCR

Shayma Alathari from the University of Exeter was the next presenter at the Nanopore Community Meeting 2022 that I watched present. Their five-minute session was very brief, and packed with information. The title of Alathari’s session was “Development and application of genomic tools for tracking viral outbreaks in fish.”Alathari is a Ph.D. student interested in […]
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Nanopore Sequencing to Investigate Splicing Order and Deadenylation Trends

Karine Choquet from Harvard Medical School spoke at the Nanopore Community Meeting 2022 about “Direct RNA sequencing reveals multi-intron splicing order and poly(A) tail lengths across subcellular compartments.” This five-minute session began by explaining RNA processing and removal of introns in eukaryotic gene expression. Choquet explained that “RNA processing is essential for eukaryotic gene expression” […]
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The Advantages of POD5

I have been thinking and learning about POD5 files. Tonight, I watched a relevant Nanopore Community Meeting 2022 session by Alex Merry, Instrument Software Fellow at Oxford Nanopore Technologies. The session was entitled “Arrow: pointing the way forward for high-performance nanopore signal handling with POD5.” They began talking about FAST5 files to store signal data […]
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Targeted Sequencing of Mycobacterium tuberculosis Resistance Genes with Nanopore

“Profiling drug-resistant Mycobacterium tuberculosis with targeted nanopore sequencing” was the title of the sessionn Shannon Murphy from the Wadsworth Center – New York State Department of Health presented at the Nanopore Community Meeting 2022. Murphy spoke about how they are planning on using Nanopore sequencing to address some of the challenges of Mycobacterium tuberculosis (MTB). […]
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Branching Out to Sequence Single-cell Transcript Isoforms with Nanopore

Tonight I watched Sheridan Cavalier from The John Hopkins University School of Medicine present at the Nanopore Community Meeting 2022. The title of the session was “Single-cell transcript isoform sequencing of the activated adult mouse hippocampus with 10x Genomics and Oxford Nanopore.” Cavalier is a graduate student and developed an approach to sequence mouse hippocampus […]
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Sniffles2 and Structural Variations

Tonight I watched Fritz Sedlazeck from The Baylor College of Medicine Human Genome Sequencing Center present at the Nanopore Community Meeting 2022 on “Rapid structural variant calling across AllOfUs using Oxford Nanopore sequencing.” Sedlazeck spoke about structural variations (SV) that are 50bp+ genomic alterations. Long read sequencing SV calling improves detection. Sedlazeck and team created […]
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Exploring Isoform Diversity

Tonight I watched the Nanopore Community Meeting 2022 session by Alisa MacCalman from the University of Exeter in the UK. The title of the session was “Ultra-deep targeted transcript sequencing identifies isoform diversity across human pancreatic development.” MacCalman spoke about pancreatic development and that most of the knowledge is from mouse models. They are interested […]
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Mapping Chromosomal Translocations

“Can nanopore long-read sequencing replace current cytogenetic methods in clinical genetic diagnostics” was the title of Emilie Boye Lester’s session at the Nanopore Community Meeting 2022. Lester is from Odense University Hospital in Denmark and explained that the aim of their study was to “explore the capability of long-read whole genome sequencing to detect structural […]
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