Oxford Nanopore at SIGU 2025
SIGU intends to collaborate with those in Italy who are interested in research and any type of in-depth study related to the disciplines of Medical Genetics and Human Genetics, in particular by developing quality criteria for Medical Genetics laboratories operating in public and private health facilities, contributing to the development of guidelines in the field of Human Genetics research and promoting by all means public awareness of the functions, the potential and limits of the diagnostic techniques of Human Genetics.
Oxford Nanopore will be exhibiting at the Italian Society of Human Genetics (SIGU) congress in September, 2025. We will also host a Corporate Session on Wednesday, 24 September, 2025.
The latest advances in Oxford Nanopore sequencing are enabling researchers to uncover the full spectrum of genetic and epigenetic variation in rare and complex diseases—supported by flexible, end-to-end workflows and intuitive analysis tools designed to streamline discovery. This workshop will showcase how this approach is helping to reveal methylation signatures, uncover disease mechanisms hidden within structural variants, and has the potential to resolve previously undiagnosed cases—bringing clarity to rare disease, without complexity. Presentations will include: a new cytogenetic analysis framework capable of detecting pathogenic copy number variants in real time; the use of sequencing in uncovering missing heritability through access to “dark” genomic regions and methylation profiling; and multi-disorder validation studies demonstrating utility across a spectrum of variant types. Attendees will hear how sequencing reads of any length are being used to accelerate research in complex disease areas—supporting deeper discovery with greater efficiency.
Details and registration below.
Agenda
14:10 – 15:10 hrs CEST | Agenda (subject to change) | |
|---|---|---|
14:10 - 14:15 hrs | Introduction | Angelica Vittori, Oxford Nanopore Technologies |
14:15 - 14:30 hrs | Clinical validation of Oxford Nanopore long-read WGS across multiple rare disorders and multiple mutation types including episignature | Alessandra Renieri, Full Professor of Medical Genetics, University of Siena |
14:30 - 14:45 hrs | Oxford Nanopore LR-WGS to handle missing heritability in rare diseases | Cecilia Mancini, Postdoctoral Researcher, Bambino Gesù Children’s Hospital |
14:45 - 15:00 hrs | Third generation cytogenetic analysis | Alberto Magi, Associate Professor of Bioengineering, University of Florence |
15:00 - 15:10 hrs | Q&A |
Speakers
Clinical validation of Oxford Nanopore long-read WGS across multiple rare disorders and multiple mutation types including episignature
Alessandra Renieri, University of Siena
...
Oxford Nanopore LR-WGS to handle missing heritability in rare diseases
Cecilia Mancini, Bambino Gesù Children’s Hospital
...
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Third generation cytogenetic analysis
Alberto Magi, University of Florence
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