Softwares

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 […]
Read more

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 […]
Read more

Single-cell Mutation Profiling and Engineering

“A single-cell approach to cancer mutation discovery and CRISPR phenotypic modeling” was the title of the London Calling 2023 session by Hanlee Ji from Stanford University. Ji spoke about the use of single cell genomics and variant analysis. They spoke about how cancer mutations and clonal variation can be detected. In addition, CRISPR technologies allow […]
Read more

Nanopore Sequencing for Equitable One Health

Lara Urban from the Helmholtz AI Institute, Helmholtz Pioneer Campus, & the Technical University of Munich in Germany spoke at London Calling 2023 about “Real-time genomics for One Health.” They explained that the concept of One Health is that the health of everything on our planet is interrelated. Urban explained how nanopore sequencing can unlock […]
Read more

Direct RNA Sequencing with RNA004

We have been trying bacterial transcriptomics using Nanopore sequencing. I am particularly interested in direct RNA sequencing. Tonight I watched the London Calling 2023 session by Libby Snell, Principal Scientists/Applications at Oxford Nanopore Technologies, and Martin Smith from Sainte-Justine University Hospital Research Center in Canada. They presented a session entitled “Direct RNA sequencing update (SQK-RNA004): […]
Read more

Nanopore and Ophthalmology

Tonight I watched the London Calling 2023 session by Gavin Arno from the University College London Institute of Ophthalmology, Moorfields Eye Hospital & North Thames Regional Genomics Laboratory Hub in the UK. Arno presented a session entitled “The potential clinical utility of amplicon and targeted nanopore sequencing for rare disease diagnosis.” They spoke about how […]
Read more

Retrotransposon Insertions in Rare Diseases

Belen de la Morena-Barrio from the University of Murcia, Spain presented at London Calling 2023 on “Nanopore sequencing reveals retrotransposon insertions or complex genetic mechanisms in four rare disorders.” Morena-Barrio spoke about the impact of “rare” diseases and the challenges of diagnosis. They noted that often it takes four or five years for accurate diagnosis […]
Read more

Nanomonsv

Yuichi Shiraishi from the National Cancer Center in Japan presented at London Calling 2023 on “Precise characterization of somatic complex structural variations from paired long-read sequencing using nanomonsv.” Shiraishi explained that long-read sequencing is effective for detecting somatic structural variations (SVs), though there are few tools for systematically detecting somatic SVs using paired tumor and […]
Read more

Structural Variation Landscape Analysis with SAVANA

Hilary Elrick from EMBL-EBI in the UK spoke at London Calling 2023 about “SAVANA: a computational method to characterise structural variation in human cancer genomes using nanopore sequencing.” They spoke about the structural variants in cancer and how much is still unknown or understudied. Elrick studied sarcoma and glioblastoma. Sarcomas are cancers of bone and […]
Read more

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 […]
Read more
Press ESC key to close search