Ultra-rich human data — variant analysis with EPI2ME

Abstract Unlock the complete range of genetic and epigenetic information in your sequencing data. Learn how our EPI2ME human variation workflow enables you to analyse your human samples in a few clicks, uncovering small nucleotide, structural, copy number, and tandem repeat variation as well as DNA methylation changes. See the whole picture in your data. Biography Dr. Matt Parker is Director, Clinical Bioinformatics Software at Oxford Nanopore Technologies and sits in the Customer Workflows (EPI2ME) team. The Customer Workflows team produce bioinformatics analysis workflows and platforms (EPI2ME) for the analysis of Oxford Nanopore sequencing data. As a health care and professionals council registered clinical bioinformatician, Matt is interested in the potential of Oxford Nanopore sequencing to improve human health through better genomic diagnostics. Matt and his team are focused on developing medical device grade analysis workflows across infectious diseases, rare disease, and cancer that can be deployed on Oxford Nanopore devices and in the cloud to take Oxford Nanopore sequencing reads and derive meaningful clinical interpretations. Sean McKenzie is a genome biologist and bioinformatician with broad expertise in human and comparative genomics. During his PhD at The Rockefeller University, USA, and postdoctoral research at the University of Lausanne in Switzerland, he studied genome architecture and evolution, and worked to understand the genomic basis of social behavior in insect models. He began working on human, clinical, and translational genomics and multiomics as a bioinformatician at Emory University, USA, before joining the Applications department at Oxford Nanopore Technologies in 2020. Sean currently serves as Associate Director of Genomic Applications Bioinformatics, leading the application benchmarking and US pilot project bioinformatics teams.