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Join us at the 2026 ASHG Annual Meeting in Montreal to explore how SOPHiA DDM™ supports genomic analysis and interpretation across rare and inherited disorders, including hereditary cancer, and pharmacogenomics.
Visit us at Booth #517 to connect with our genomics experts, experience SOPHiA DDM™ firsthand and discover how a data driven approach can help laboratories streamline complex genomic workflows and turn data into meaningful insights.
More ways to connect with us at ASHG
Join us at our CoLab
Hear about Trillium Health Partners’ approach to PMS2/PMS2CL disambiguation and see the latest data for our enhanced exome solutions.
Friday, October 23 | 10.15-10.45 | CoLab Theatre 2
Explore our poster presentation
Comprehensive detection of SNVs / Indels, CNVs and complex gene conversions across germline applications using an enhanced exome approach
Authors: Tamara Maas, Yuanlong Liu, Bita Khalili, Dmitri Ivanov, Alfredo Mari, Jian Yu, Rieke Kempfer, Zhenyu Xu
Wednesday, October 21, 2:30-4:30 EDT
Discover new data and insights from our latest work.
Plan your ASHG visit
Whether you're working on rare disorders, hereditary cancer, or pharmacogenomics, we'd love to connect and learn more about the challenges your laboratory is working to solve.
Meeting slots at ASHG fill quickly. Book time with our team before you arrive in Montreal.
See you there. 🧬
SOPHiA GENETICS is proud to join the 37th CBGM in São Luís, Maranhão (Sept 2–5, 2026), celebrating 40 years of SBGM and the future of precision medicine in Brazil. Meet us at Booth #20 to discover the latest innovations of the New Generation SOPHiA DDM™ Platform, with a special focus on Exome advancements.
Most lab leaders arrive at ADLM with the same question: how do we bring NGS in-house, or scale what we already run, without adding headcount, cost, or turnaround time?
At Booth #1172, the AVITI24 system and the SOPHiA DDM™ Platform’s AI-powered analysis run as one connected workflow. Your lab sequences and interprets its own data, and your data stays in-house.
780+ institutions run SOPHiA DDM™ today
70+ countries, standardizing and scaling NGS workflows
Stop by Booth #1172, wherever your lab is.
Tell us where you are, and we’ll tailor the conversation.
Booth #1172 hours:
Tue Jul 28, 9:30 AM–5:00 PM
Wed Jul 29, 9:30 AM–5:00 PM
Thu Jul 30, 9:30 AM–12:00 PM
See how to stand up sequencing and analysis together, without building a bioinformatics team from scratch.
See where SOPHiA DDM™ removes the bottlenecks you already feel: variant interpretation time, workflow standardization, and QC overhead.
Walk through the cost and turnaround math labs are using to build the business case for in-house testing.
Whether you’re evaluating NGS solutions, expanding your test menu, or exploring how AI can strengthen your genomic pipeline, our teams are ready to talk.
Book 15 minutes with our team now, or simply stop by and say hello. See you in Anaheim.
Variants of uncertain significance (VUS) remain a critical bottleneck in hereditary cancer testing, especially those in challenging regions like splice sites, non-coding areas, or affecting copy number. In this two-part session, discover how combining RNA-seq with DNA-based testing can functionally resolve these difficult cases.
Tobias Bethge (Genetica AG) shares how his laboratory has integrated targeted RNA sequencing alongside DNA-based testing to functionally resolve VUS, highlighting practical considerations in sample selection, library preparation, and data interpretation. He then introduces a targeted capture-panel approach developed in collaboration with SOPHiA GENETICS, and walks through real case studies demonstrating the method's clinical impact.
Izabela Matyszczak (SOPHiA GENETICS) takes a deeper dive into this collaboration from the bioinformatics perspective, exploring project design, QC metrics, concordance data, and real-world case studies.
You'll come away with an understanding of how RNA-seq complements DNA sequencing, and how intelligent panel design and reliable bioinformatics can make this a practical approach.
You will learn:
Dr. rer.nat. Tobias Bethge
Genetica AG, Zurich, Switzerland
Izabela Matyszczak
Technical Product Manager, SOPHiA GENETICS
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.
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 to obtain the appropriate product information for your country of residence.
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