Rare diseases are genetically heterogeneous, and the diversity and complexity of variants make data analysis very challenging. Oxford Nanopore Technologies enables native sequencing of any read length, including long reads, for the detection of complex variants, such as structural variants (SVs), repeat expansions, and episignatures of imprinting disorders that traditional methods have missed.

To overcome the challenges of data analysis, the EPI2ME software from Oxford Nanopore Technologies provides a powerful but intuitive platform for analysing nanopore data, providing streamlined analysis and reporting of all variant types. Furthermore, Geneyx and Fabric deliver platforms to help researchers make the most of nanopore data with their tertiary analysis offerings.

In this knowledge exchange, you will learn how EPI2ME simplifies genomic and epigenomic analysis of your rare disease samples. Our partners will then showcase their solutions for variant prioritisation to guide insights for rare and germline disorders.

First, Dr Jennifer Gribble (Field Applications Scientist, Bioinformatics at Oxford Nanopore Technologies) will present a summary of the human variation workflow using nanopore sequencing, with a focus on EPI2ME analysis.

Next, Dr Suzanne Drury (Field Applications Scientist, EMEA at Geneyx) will introduce the Geneyx Analysis platform and explain how it enables healthcare professionals and researchers to make the most of — and transition to — nanopore sequencing.

Finally, Dr Samuel Strom (VP of Clinical Operations at Fabric Genomics) will discuss the integration of Fabric Genomics' AI-powered workflow that streamlines Oxford Nanopore sequencing data for interpretation and clinical research reporting.

Join us at 4pm UK time (12pm EDT) on 27th March.