Assises de Génétique 2026
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The French Federation of Human Genetics and the Genetics team from the University Hospital of Nice are delighted to roll out the red carpet for a "walk up the steps" at the Human and Medical Genetics Conference which will take place at the Palais des Festivals in Cannes from January 27 to 30, 2026.
This event is the largest gathering of French-speaking geneticists, bringing together over 2,000 genetics professionals, physicians, and researchers from around the world to exchange ideas on recent advances and major challenges in the field of human and medical genetics. It is an essential opportunity for sharing and discussing the most innovative discoveries in genomics, precision medicine, and medical genetics.
Oxford Nanopore will be exhibiting at the Assises de Génétique Humaine et Médicale 2026. We will also host a Luncheon workshop on Tuesday 27th January at 12:40 in Salon Ambassadeur 2/3.
Details and registration below.
Visit us at Booth #10 to meet the team and learn more about your chance to win a ticket to attend Oxford Nanopore's flagship event, London Calling 2026 where you can connect with some of the brightest minds in the field. Explore the latest breakthroughs in Oxford Nanopore sequencing, and dive into the cutting-edge research shaping the future of science. From thought-provoking keynotes to interactive discussions.
Agenda
12:40 – 13:40 hrs CEST | Agenda (subject to change) | |
|---|---|---|
12:40 - 12:50 hrs | Introduction AS HCP/PGX and WGS 24H | Cora Vacher, Oxford Nanopore Technologies |
12:50 - 13:10 hrs | Nanopore Sequencing with Adaptive Sampling: Contribution to Oncogenetics for the Characterization of Complex Constitutional Variants | Voreak Subbing, Gustave Roussy institute |
13:10 - 13:30 hrs | Assessing the potential clinical utility of ONT sequencing | Erika Souche, Genomics Core, Leuven |
13:30 - 13:40 hrs | Q&A |
Speakers
Long-read sequencing by Oxford Nanopore Technologies (ONT), combined with adaptive sampling, allows overcoming the limitations of conventional short-read next-generation sequencing (NGS). This approach offers the possibility to characterize complex structural variants by precisely identifying breakpoints, resolving alignment ambiguities related to pseudogenes, and establishing haplotypes (phasing). We illustrate its relevance in the context of hereditary cancer predisposition through four representative scenarios.
Long-read sequencing by Oxford Nanopore Technologies (ONT), combined with adaptive sampling, allows overcoming the limitations of conventional short-read next-generation sequencing (NGS). This approach offers the possibility to characterize complex structural variants by precisely identifying breakpoints, resolving alignment ambiguities related to pseudogenes, and establishing haplotypes (phasing). We illustrate its relevance in the context of hereditary cancer predisposition through four representative scenarios.
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Voreak Suybeng, Gustave Roussy institute Despite the implementation of Next Generation Sequencing (NGS) as standard of care, about half of patients with Developmental Disorders (DD) and Neurogenetic Disorders (ND) remain without genetic diagnosis. While NGS performs very well for the detection of short variants such as Single Nucleotide Variants (SNVs) and indels, it is less accurate for the detection of Structural Variants (SVs) and Short Tandem Repeat (STR) expansions. Long read technologies such as Oxford Nanopore Technologies (ONT) are a good alternative to NGS as they allow the detection of all variant types as well as methylation calling. To assess the potential clinical utility of ONT sequencing, the performance of SNV, indel and SV calling has been assessed using the Genome In A Bottle (GIAB) sample HG002. STR expansion detection has been evaluated by sequencing samples from six ND patients with known STR expansions. Episignature detection has been tested on 20 samples from patients with 13 distinct DDs. Finally, ONT sequencing was performed on samples from a cohort of 25 patient-parent trios with intellectual disability and/or multiple congenital anomalies. This study demonstrates that ONT is suitable for SNV and indel detection in coding regions. SVs, STR expansions and episignature can be reliably called genome wide. Using a standard DNA extraction, all STR expansions could be detected by ONT sequencing and the repeat length was consistent with routine diagnostic results. ONT and microarray-based methylations were concordant and disease samples could be correctly classified based on their episignature. Moreover all causative variants, previously detected by standard of care, were detected by ONT. ONT sequencing of DD trios identified about 25,000 SVs per individual, of which 100 were classified as de novo. While the first results are promising, they also outline the need of population databases for a better variant filtering.
Despite the implementation of Next Generation Sequencing (NGS) as standard of care, about half of patients with Developmental Disorders (DD) and Neurogenetic Disorders (ND) remain without genetic diagnosis. While NGS performs very well for the detection of short variants such as Single Nucleotide Variants (SNVs) and indels, it is less accurate for the detection of Structural Variants (SVs) and Short Tandem Repeat (STR) expansions. Long read technologies such as Oxford Nanopore Technologies (ONT) are a good alternative to NGS as they allow the detection of all variant types as well as methylation calling. To assess the potential clinical utility of ONT sequencing, the performance of SNV, indel and SV calling has been assessed using the Genome In A Bottle (GIAB) sample HG002. STR expansion detection has been evaluated by sequencing samples from six ND patients with known STR expansions. Episignature detection has been tested on 20 samples from patients with 13 distinct DDs. Finally, ONT sequencing was performed on samples from a cohort of 25 patient-parent trios with intellectual disability and/or multiple congenital anomalies. This study demonstrates that ONT is suitable for SNV and indel detection in coding regions. SVs, STR expansions and episignature can be reliably called genome wide. Using a standard DNA extraction, all STR expansions could be detected by ONT sequencing and the repeat length was consistent with routine diagnostic results. ONT and microarray-based methylations were concordant and disease samples could be correctly classified based on their episignature. Moreover all causative variants, previously detected by standard of care, were detected by ONT. ONT sequencing of DD trios identified about 25,000 SVs per individual, of which 100 were classified as de novo. While the first results are promising, they also outline the need of population databases for a better variant filtering.
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Erika Souche, Genomics Core, Leuven
