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Classification guidelines for myeloid malignancies have undergone more changes in the last three years than in the previous decade. The 2022 WHO and International Consensus Classification updates went beyond adjusting diagnostic thresholds, they fundamentally redefined what constitutes a complete genomic profile, expanding the alterations that need to be detected, the variant types that need to be investigated, and the findings that have direct relevance to treatment decisions and patient monitoring.
For many laboratories, keeping pace with these changes has required the adoption of broad-coverage NGS applications. At Unidade Funcional de Hematologia Molecular, Unidade Local de Saúde de Coimbra, one of Portugal's national reference centers for hemato-oncology, Dr. Margarida Coucelo has led that transition, investigating myeloid malignancies across the full disease spectrum, from chronic conditions such as myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) through to acute leukemias. That breadth of caseload, combined with the center's role as a referral hub receiving samples from institutions across the country, means that the quality and completeness of every genomic
report carry significant value for clinical teams.
In this webinar, Dr. Coucelo will share that experience through real cases, illustrating how a comprehensive DNA-based NGS approach can contribute to the identification of relevant variants and support discussions around treatment options and risk stratification. Cases will span a range of scenarios, from the detection of rare fusion genes and somatic variants to consolidating germline predisposition testing within a single workflow, to building a more complete picture to guide more robust clinical decisions.
This webinar offers an opportunity to explore how expanded NGS workflows are being applied in a high-volume reference setting, and what that experience may mean for laboratories navigating the evolving landscape of myeloid malignancy testing.
What began at our inaugural forum in 2024 has since taken shape across the field. SOPHiA GENETICS and the Memorial Sloan Kettering Cancer Center (MSK) return to ASCO to convene leading voices in precision oncology, this time with a singular focus: the liquid biopsy revolution.
This forum traces the journey from a pioneering academic-industry collaboration with MSK to a global movement reshaping how cancer is detected, monitored, and treated.
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Speaker: Dr. rer. nat. Tobias Bethge, Genetica AG, Zurich, Switzerland
About this webinar
Variants of uncertain significance (VUS) remain one of the most persistent bottlenecks in hereditary cancer testing - particularly those located near splice sites, in non-coding regions, or affecting copy number. In this talk, Tobias Bethge shares how Genetica AG, a genetic counseling and diagnostics laboratory in Zurich, has incorporated targeted RNA sequencing alongside DNA-based testing to functionally resolve such variants.
Tobias opens with the practical groundwork: how RNA-seq can functionally interrogate variants predicted to affect splicing, how it can indirectly flag deep intronic, regulatory, and structural events that DNA sequencing alone may miss, and the real constraints labs face - from limited gene expression in accessible tissues, to the sampling and library preparation decisions that shape data quality. He then introduces a targeted capture-panel approach developed in collaboration with SOPHiA GENETICS, built around an 18-gene RNA panel spanning the lab's broader 83-gene hereditary cancer panel, designed to enrich relevant transcripts while reducing background and sequencing cost.
The talk is grounded in four real test cases from Genetica's cohort. A BRCA2 missense variant at the edge of an exon boundary is shown to cause exon skipping in roughly half of transcripts - supporting a pathogenic classification. Two non-coding BRCA1 variants near exon 1 illustrate how seemingly similar splice-site predictions can resolve very differently: one shown to be a benign splicing polymorphism also present in controls, the other showing partial allelic loss consistent with a likely pathogenic, possibly hypomorphic effect - a distinction made possible by tracking heterozygous SNPs across DNA and RNA. A final case demonstrates how RNA-seq can confirm that a PALB2 exon 11 duplication detected by CNV analysis and MLPA sits in tandem and disrupts the reading frame, supporting a pathogenic call.
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SOPHiA DDM™ applications and Alamut™ Visual Plus are For Research Use Only unless otherwise specified. The RNA-seq capture panel solution discussed is part of an ongoing research collaboration and is not yet commercially available. The opinions expressed are those of the speaker and may not represent the opinions of SOPHiA GENETICS.
Speaker: Gorka Alkorta-Aranburu, PhD, CIMA LAB Diagnostics, Clínica Universidad de Navarra, Pamplona, Spain
About this webinar
Targeted gene panels remain efficient and affordable, but they carry known blind spots: deep intronic variants, complex structural rearrangements, and non-coding regulatory elements that fall outside their design. In this talk, Gorka Alkorta-Aranburu shares CIMA LAB Diagnostics' early experience moving from targeted panel testing toward whole genome sequencing (WGS), as part of an Early Access Program (EAP) with SOPHiA GENETICS, and the operational and analytical questions that came with it.
Gorka walks through the practical barriers labs face when considering WGS - data volume, compute demands, multi-variant-type detection, and the challenge of finding clinically relevant variants among millions of calls - and how a structured, four-phase EAP (platform familiarization, data quality assessment, singleton validation, and family trio analysis) helped his team evaluate whether SOPHiA DDM™ for WGS could meet the standards required for routine use.
The talk is grounded in real validation data and test cases from CIMA LAB's cohort. Raw data quality assessment across blood and saliva-derived samples revealed how DNA source materially affects coverage, including the impact of microbial DNA content in saliva samples on overall human coverage. Known variant call concordance testing showed high accuracy across SNVs, indels, and structural variants. Three singleton cases then illustrate where WGS closed gaps left by panel and exome testing: a compound heterozygous GJB2/GJB6 hearing loss case combining a point mutation with a regulatory deletion missed by exome sequencing; a pathogenic mitochondrial variant resolved with precision despite the risk of NUMT-related false positives; and a single-exon BRCA1 deletion resolved at nucleotide-level resolution where an exome panel could not separate signal from noise. Finally, Gorka presents early results from applying SOPHiA DDM™ familial variant analysis to 11 previously untested WGS trios, with high parental concordance rates supporting its use in variant prioritization.
You will learn:
SOPHiA DDM™ applications are For Research Use Only unless otherwise specified. The opinions expressed are those of the speaker and may not represent the opinions of SOPHiA GENETICS.
Speaker: Minna Paavola, Ph.D., Clinical Laboratory Geneticist, Turku University Hospital, Turku, Finland
About this webinar
Whole exome sequencing (WES) presents distinct challenges depending on where in the clinical spectrum it's applied - from fetal phenotypes with limited available data, to longstanding unresolved cases in adults. In this talk presented at ESHG 2026, Minna Paavola shares how the germline rare disease team at Turku University Hospital has built a scalable, consistent WES workflow that spans both ends of that spectrum.
Minna will walk through the lab's end-to-end process - from library preparation using the SOPHiA DDM™ Whole Exome Solution through analysis and variant classification in SOPHiA DDM™, with Alamut™ Visual Plus supporting interpretation - and explain the team's approach to filtering, prioritization, and variant flagging across referral types. The talk also draws on two research cases from the lab's practice: a prenatal trio in which compound heterozygous variants in the GLE1 gene - one a Finnish founder variant for Herva disease - were identified in a fetus presenting with severe fetal akinesia; and an adult solo case resolved after decades, in which biallelic MRE11 variants explained a complex neurological phenotype initially complicated by childhood cerebral palsy. Both cases illustrate how careful attention to population-specific allele frequencies, inheritance patterns, and HPO-guided filtering can surface clinically significant findings that initial automated classification may underweight.
Minna will also discuss the Finnish Disease Heritage - a group of approximately 40 rare monogenic disorders at elevated frequency in Finland due to historical population bottlenecks - and how awareness of founder variants shapes the team's analytical approach.
You will learn:
SOPHiA DDM™ Exome applications and Alamut™ Visual Plus are For Research Use Only. The opinions expressed are those of the speaker and may not represent the opinions of SOPHiA GENETICS.
En este webinar descubrirá como SOPHiA GENETICS facilita el análisis terciario con Alamut™️ Visual Plus simplificando los flujos de trabajo de interpretación de variantes y reduciendo el tiempo de respuesta y resolución de casos complejos. Además, contará con la participación de Yolanda Ramirez García, del Hospital de Donostia, que expondrá al detalle qué funciones de Alamut usan diariamente en la rutina de su laboratorio.
Alamut™ Visual Plus es un navegador genómico integral que se muestra en una interfaz gráfica interactiva, conectando a los usuarios con múltiples fuentes públicas (+60) y herramientas de predicción (splicing & missense). Además, su navegador genómico permite localizar rápidamente sus variantes y la carga y visualización de diferentes tipos de archivos (BAM, Sanger, VCF, BED…). Todo ello con el fin de aumentar la productividad y facilitar la evaluación de la patogenicidad para reducir el tiempo de respuesta del laboratorio. La herramienta se adapta perfectamente a cualquier worklow rutinario, permitiendo ser el único punto de acceso a diferentes bases de datos para las anotaciones de variantes.
Ideal para la rutina de laboratorio, así como para el personal dedicado a investigación, Alamut™️ Visual Plus es la solución definitiva para proporcionar a su laboratorio un análisis de calidad que le brinda mayor tiempo en otras tareas, ya sea para analizar más casos o dedicar esfuerzos a las publicaciones.
Are you getting everything Alamut Visual Plus has to offer? Watch our webinar that takes a comprehensive look at Alamut Visual Plus, the variant interpretation platform built around ACMG/AMP guidelines and trusted by clinical and research genomics teams worldwide. Whether you are already using AVP day-to-day or exploring it for the first time, this session is designed to show you what best-in-class variant interpretation looks like in practice.
We will walk through the full capabilities of the platform and introduce the most exciting additions in the v2.1 release, including enhanced Sanger visualization that brings confirmatory sequencing data seamlessly into your interpretation workflow, and newly integrated ClinGen framework support for evidence-based oncogenicity classification alongside established germline guidelines.
This is a session built for scientists and clinicians who want to interpret variants faster, more consistently, and with greater confidence.
Register now to watch on demand.
This webinar is presented in Chinese.
Alamut™ Visual Plus empowers clinical genomics teams with the tools needed to interpret genetic variants with speed and confidence. This webinar, hosted for the Chinese user community by Yi Lian, Product Director at SOPHiA GENETICS, demonstrates how Alamut™ Visual Plus v2.0 accelerates variant workflows from enhanced navigation and splicing prediction to visualization of bioinformatics files and customizable reporting.
This webinar is presented in Spanish.
Alamut™ Visual Plus empowers clinical genomics teams with the tools needed to interpret genetic variants with speed and confidence. This webinar, hosted for the Spanish user community by David Munoz, Alamut™ Visual Plus Expert at SOPHiA GENETICS, demonstrates how Alamut™ Visual Plus v2.0 accelerates variant workflows from enhanced navigation and splicing prediction to visualization of bioinformatics files and customizable reporting.
Accurate and comprehensive genomic insights are increasingly essential for the diagnosis, classification, and risk stratification of myeloid malignancies — spanning single nucleotide variants, gene fusions, and large chromosomal aberrations. Yet consolidating these layers of genomic data into routine clinical workflows remains a significant bottleneck for many laboratories.
In this webinar, join Cecilia Lang, Biochemist and Head of Cytogenetics at Laboratorio de Especialidades Bioquímicas (LEB, Argentina), and Brandon Bullough, Product Marketing Director at SOPHiA GENETICS, as they explore how NGS-based molecular profiling with the SOPHiA DDM™ Myeloid Solution v2 (MYS2) can consolidate laboratory workflows and accelerate time-to-insights in the analysis of myeloid malignancies.
Brandon Bullough will open with an overview of SOPHiA DDM™ MYS2, tracing the need that drove its development and what sets it apart as a comprehensive myeloid solution. Cecilia Lang will then share her team's real-world experience implementing SOPHiA DDM™ MYS2 at a cytogenetics-focused reference center in Latin America — including its practical impact on day-to-day workflows and her perspective on where the field is headed.
Learning objectives
Speakers
Cecilia Lang
Head of Cytogenetics and FISH
Laboratorio de Especialidades Bioquimicas, LEB
Andrea Bender
Head of Molecular Biology
Laboratorio de Especialidades Bioquimicas, LEB
Brandon Bullough
Product Marketing Director, Blood Cancers
SOPHiA GENETICS
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.
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