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Methylation detection with nanopore sequencing: Reduced-Representation Methylation Sequencing (RRMS)


Event overview

This Knowledge Exchange started off with an introduction to nanopore sequencing from Rocio Esteban, who went through how the technology works and how direct, PCR-free sequencing enables gold-standard methylation detection.

Then Irina Vasilescu introduced Reduced-Representation Methylation Sequencing (RRMS), a targeted methylation detection method utilising adaptive sampling for cost-effective, PCR-free enrichment during sequencing. Irina also went through the RRMS workflow and share best practice guidance.

Finally, Rocio shared an worked example of RRMS, demonstrating its performance compared with that of short-read reduced-representation bisulfite sequencing (RRBS).

Check out this poster created by the Oxford Nanopore Application team by clicking here.

Meet the speakers

Irina-Alexandra Vasilescu is an Applications Scientist at Oxford Nanopore. Irina joined Oxford Nanopore as part of the Applications team in 2019, contributing to cDNA kit development and various benchmarking projects, more recently including Reduced-Representation Methylation Sequencing (RRMS). Prior to working at Oxford Nanopore, Irina completed an undergraduate degree in biomedical sciences and a research focused Master’s degree in neuroscience at the University of Southampton.

Rocio Esteban is an Applications Support Bioinformatician at Oxford Nanopore. She completed a biotechnology degree in the University of Lleida and a Master’s degree in computational sciences in the University of Vigo. Prior to joining Oxford Nanopore, she worked as a Bioinformatics Specialist for a genomics company, helping to develop various bioinformatics pipelines including genotyping projects for population genomics studies, and genome assembly and annotation. She joined Oxford Nanopore 2.5 years ago, starting in the benchmarking team, where her work focused on methylation calling and germ-line and somatic SV calling general benchmarking, and also on adaptive sampling, helping to develop the Reduced-Representation Methylation Sequencing (RRMS) method. Recently, she started a new role, providing support in customer-facing projects.

Authors: Irina-Alexandra Vasilescu and Rocio Esteban

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