PromethION

  • Home
  • Tag: PromethION
  • Page 2

Uncovering Novel Peptides and Mutations: Transcriptomic Analysis of Human Cortex

We are back from the beach! Tonight, I watched Rosemary Bamford from the University of Exeter in the UK present at London Calling 2024 on “Full-length transcript atlas of the developing human cortex.” Bamford is from the Complex Disease Epigenomics Group, and they study disease-associated genomic variation. Bamford explained alternative splicing as a way of […]
Read more

Real-time Genomic Characterization of Pediatric Acute Leukemia with Adaptive Sampling

Julie Geyer from The University of North Carolina at Chapel Hill presented at London Calling 2024 on “Real-time genomic characterization of pediatric acute leukemia using adaptive sampling. They explained that leukemia can be acute myeloid leukemia or acute lymphoblastic leukemia. The presence of immature cells is typically performed with karyotype analysis, fluorescence in-situ hybridization (FISH), […]
Read more

Amyloid Pathology and Synaptic Adaptation: Insights from Long-read Transcriptomics

Umran Yaman from the UK Dementia Research Institute at University College London in the UK presented at London Calling 2024 on “Long-read transcriptomics shows synaptic adaptation to amyloid pathology in Alzheimer’s.” Yaman is a Ph.D. candidate and described how the accumulation of amyloid drives microglial activation. They performed long-read sequencing of cDNA from mice. They […]
Read more

Identification of Retrotransposons in Cancer and Germline Samples

Tonight, I watched Kimmo Palin from the University of Helsinki present at London Calling 2019 on “Retrotransposon variation in human genome and tumorigenesis.” They began by discussing retrotransposons and describing them as “copy-paste elements” in the genome that copy themselves with an RNA intermediate. They range in size between 300 bp and 6,000 bp. LINE1 […]
Read more

Long-read Human Genome Sequencing Service

Andrea Riposati from Dante Labs in the US presented at London Calling 2019 on “Human long-read whole genome sequencing: applications and results.” Riposati is the co-founder and CEO of Dante Labs. They presented a case of a patient who had suffered 45 years without a diagnosis. Dante Labs provided whole genome sequencing and pharmacogenomics lab. […]
Read more

Comparison of Different scRNA-seq Methods

Mike Clark from the University of Melbourne in Australia presented at London Calling 2019 on “Deep transcriptomic sampling with long-read single cell RNA sequencing.” Clark gave the first talk in the session and explained the power of expression profiles of single cells (scRNA-seq) to identify cell types and variations in gene expression. scRNA-seq can be […]
Read more

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 […]
Read more

Structural Variants from the Bovine Long Read Consortium

I am continuing to watch the London Calling 2023 on-demand lightning talks. Tonight, I watched the session “Discovering the missing variation: a long-read sequencing study into the structural variation in two dairy breeds” by Tuan Viet Nguyen, a research scientist from Agriculture Victoria in Australia. They spoke about structural variants, defined as genomic variants larger […]
Read more

Phenotype Insight through 1000 Genomes

After an endoscopy and very drowsy day, I watched the Knowledge Exchange session entitled “Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypes. Fritz Sedlazeck and Philipp Rescheneder were the speakers. Sedlazeck has presented with Oxford Nanopore Technologies (ONT) before and is an expert in structural variation analyses. This session was recorded […]
Read more
Press ESC key to close search