SIGU 2025
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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) | |
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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
Alessandra Renieri, University of Siena Oxford Nanopore Technologies (ONT) long-read whole-genome sequencing (LR-WGS) has recently been integrated into the research workflow of the Bambino Gesù Children’s Hospital “Undiagnosed Patient Program”, representing a significant leap forward in our discovery capabilities. This cutting-edge technology has helped resolve the diagnostic odyssey for patients with rare diseases who had previously remained molecularly elusive. By uniquely enabling comprehensive scanning of challenging “dark” genomic regions, phasing, and profiling DNA methylation analysis, LR-WGS offers a powerful solution for uncovering the missing heritability behind complex phenotypes and elusive Mendelian disorders. In this report, we provide a series of compelling “use cases” where ONT LR-WGS was pivotal in identifying the molecular events implicated in these undiagnosed patients. We also explore its promising utility for episignature testing.
Oxford Nanopore Technologies (ONT) long-read whole-genome sequencing (LR-WGS) has recently been integrated into the research workflow of the Bambino Gesù Children’s Hospital “Undiagnosed Patient Program”, representing a significant leap forward in our discovery capabilities. This cutting-edge technology has helped resolve the diagnostic odyssey for patients with rare diseases who had previously remained molecularly elusive. By uniquely enabling comprehensive scanning of challenging “dark” genomic regions, phasing, and profiling DNA methylation analysis, LR-WGS offers a powerful solution for uncovering the missing heritability behind complex phenotypes and elusive Mendelian disorders. In this report, we provide a series of compelling “use cases” where ONT LR-WGS was pivotal in identifying the molecular events implicated in these undiagnosed patients. We also explore its promising utility for episignature testing.
Cecilia Mancini, Bambino Gesù Children’s Hospital Copy number variants (CNVs) play important roles in the pathogenesis of several genetic syndromes. Traditional and molecular karyotyping are considered the first-tier diagnostic tests to detect macroscopic and cryptic deletions/duplications. However, their time-consuming and laborious experimental protocols protract diagnostic times from 3 to 15 days. Nanopore sequencing has the ability to reduce time to results for the detection of CNVs with the same resolution as current state-of-the-art diagnostic tests. To fully leverage the potential of nanopore sequencing technology, we developed a novel computational framework that is capable of exploiting nanopore sequencing data as it is being generated. This method enables the identification of CNVs in real time, significantly accelerating the diagnostic process while maintaining high accuracy and reliability. Our approach offers a transformative step in clinical genomics by combining the speed of nanopore sequencing with robust computational tools tailored for CNV detection. Our novel approach was compared to molecular karyotyping for the detection of pathogenic CNVs in several samples with previously diagnosed causative CNVs of different sizes and cellular fractions. Larger chromosomal anomalies included trisomy and monosomy, while among smaller CNVs we used samples with genomic imbalances around one megabase and smaller alterations of hundreds of kilobases. We also tested samples with mosaic deletions and duplications. DNA was sequenced and data generated during runs were analyzed in online mode. All pathogenic CNVs were identified with detection time inversely proportional to size and cellular fraction. Aneuploidies were called after only 30 minutes of sequencing, whereas 30 hours were needed to call small CNVs. These results demonstrate the clinical utility of our approach that allows the molecular diagnosis of genomic disorders within a 30-minute to 30-hour time frame and its easy implementation as a routinary diagnostic tool.
Copy number variants (CNVs) play important roles in the pathogenesis of several genetic syndromes. Traditional and molecular karyotyping are considered the first-tier diagnostic tests to detect macroscopic and cryptic deletions/duplications. However, their time-consuming and laborious experimental protocols protract diagnostic times from 3 to 15 days. Nanopore sequencing has the ability to reduce time to results for the detection of CNVs with the same resolution as current state-of-the-art diagnostic tests. To fully leverage the potential of nanopore sequencing technology, we developed a novel computational framework that is capable of exploiting nanopore sequencing data as it is being generated. This method enables the identification of CNVs in real time, significantly accelerating the diagnostic process while maintaining high accuracy and reliability. Our approach offers a transformative step in clinical genomics by combining the speed of nanopore sequencing with robust computational tools tailored for CNV detection. Our novel approach was compared to molecular karyotyping for the detection of pathogenic CNVs in several samples with previously diagnosed causative CNVs of different sizes and cellular fractions. Larger chromosomal anomalies included trisomy and monosomy, while among smaller CNVs we used samples with genomic imbalances around one megabase and smaller alterations of hundreds of kilobases. We also tested samples with mosaic deletions and duplications. DNA was sequenced and data generated during runs were analyzed in online mode. All pathogenic CNVs were identified with detection time inversely proportional to size and cellular fraction. Aneuploidies were called after only 30 minutes of sequencing, whereas 30 hours were needed to call small CNVs. These results demonstrate the clinical utility of our approach that allows the molecular diagnosis of genomic disorders within a 30-minute to 30-hour time frame and its easy implementation as a routinary diagnostic tool.
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Alberto Magi, University of Florence
