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Intuitive discovery and prioritisation of variants in rare diseases with EPI2ME and partners


Webinar Overview

In this webinar, you will learn how the EPI2ME software from Oxford Nanopore Technologies simplifies genomic and epigenomic analysis of your rare disease samples. You will also hear from our partners Geneyx and Fabric on their solutions for variant prioritisation to guide insights for rare and germline disorders.

Key learnings:

  • Oxford Nanopore Technologies enables native sequencing of any read length, including long reads, for the detection of complex variants that traditional methods may have missed.

  • EPI2ME provides a powerful but intuitive platform for analysing Oxford Nanopore data, providing streamlined analysis and reporting of all variant types.

  • Geneyx and Fabric Genomics help researchers make the most of nanopore data with their tertiary analysis offerings.

Authors: Cora Vacher (Segment Marketing Manager, Oxford Nanopore Technologies), Jennifer Gribble (Field Bioinformatics Scientist), Suzie Drury (Field Application Specialist, Geneyx), Samuel Strom (VP Clinical Operations, Fabric Genomics)

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