17th June 2026 | Time 4PM CET / 10 AM EST

Are you getting everything Alamut Visual Plus has to offer? Join us on June 17th for a live 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 secure your spot.

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.

BOSTON, United States and ROLLE, Switzerland, May 5, 2026 — SOPHiA GENETICS (Nasdaq: SOPH), a global leader in Ai-driven precision medicine, today reported financial results for the first quarter ended March 31, 2026.

First Quarter 2026 Financial Results

• Revenue was $21.7 million, up 22% year-over-year
• Gross margin was 68.0% on a reported basis and 75.4% on an adjusted basis, compared to 68.7% reported and 75.7% adjusted in the prior year period
• IFRS net loss was $19.3 million, an increase of 11% year-over-year; Adjusted EBITDA loss was $9.2 million, improving 3% year-over-year

"We started 2026 strong, delivering 22% year-over-year revenue growth and a record 108,000 genomic analyses on SOPHiA DDM^TM,” said Jurgi Camblong, PhD., Chief Executive Officer and Co-Founder of SOPHiA GENETICS. “Demand for our platform continues to grow, as U.S. hospitals and laboratories increasingly look to launch Ai-powered precision medicine capabilities, and customers across the globe continue to show strong interest in new applications such as Liquid Biopsy and Enhanced Exomes.”

Camblong added, “Looking ahead, new business momentum remains strong. Exciting new applications, continued U.S. expansion, and rising interest from BioPharma provide major catalysts for future growth. Accelerating growth, in combination with our strong gross margin performance and persistent focus on operational excellence, position us well to deliver meaningful operating leverage as the year progresses.”

Business Highlights

Expanding with existing customers

• Performed a record 108,000 analyses on SOPHiA DDM^TM, representing 16% year-over-year volume growth
• Delivered strong analysis volume growth in the U.S. and Asia Pacific (APAC) with 28% and 31% year-over-year growth, respectively; Europe and Middle East (EMEA) revenue was up 30% in the period
• Expanded our footprint with existing customers as Net Dollar Retention increased to 117% in Q1 2026, up from 103% in Q1 2025
• Signed three notable expansion deals in EMEA, each valued over $1 million per year, as existing customers continue to add new applications, in addition to continued expand momentum in the U.S.
• Reached 537 core genomics customers as of March 31, 2026, up from 490 customers a year ago

Landing new customers to fuel future growth

• Signed 18 new core genomic customers in Q1 2026, which are expected to begin generating revenue over the next twelve months
• Continued to sign premier healthcare institutions across the globe, including CHU Bordeaux’s Haut Lévêque Hospital, one of France’s major university hospitals, for HemOnc; Maastricht UMC, a leading Dutch academic medical center, for MSK-ACCESS^® powered with SOPHiA DDM^TM; and Christian Medical College, one of India’s most prestigious medical institutions, for HemOnc

Accelerating growth in the U.S. market

• Achieved 28% year-over-year U.S. analysis volume growth in Q1 2026
• Announced an expanded partnership with Mount Sinai Health System, one of the leading academic health systems in the U.S., which is adopting SOPHiA DDM^TM for HemOnc and Solid Tumor testing; Mount Sinai joins a growing network of New York-area partners, including NYU Langone Health and Memorial Sloan Kettering Cancer Center
• Signed Protean BioDiagnostics, a Florida-based cancer diagnostics company, which is adopting SOPHiA DDM^TM for Solid Tumor testing

Scaling growth with new applications

• Reached a total of 100 customers across 30+ countries signed-to-adopt the Liquid Biopsy application MSK-ACCESS^® or the Solid Tumor application MSK-IMPACT^®, less than two years after launch
• Performed nearly 3,000 Liquid Biopsy analyses in Q1 2026, up 100%+ year-over-year, as customers implement the application and begin to ramp usage
• Signed major new customers to the Liquid Biopsy application MSK-ACCESS^® powered with SOPHiA DDM^TM, including Ospedale Niguarda, one of Italy’s leading hospitals in Milan; Ruhr University Bochum in Germany; and King Abdullah International Medical Center in Saudi Arabia

Building BioPharma partnerships

• Continued to build momentum with BioPharma partners around evidence generation, sponsored deployment projects, and commercialization and co-development of future companion diagnostic (CDx) offerings
• Delivered positive BioPharma revenue growth in Q1, modestly accretive to the company’s overall growth rate, as several recently signed new projects begin generating revenue

Driving operational excellence

• Achieved a 75.4% adjusted gross margin in Q1 2026 by continuing to optimize compute costs and leverage the scale of the cloud-native SOPHiA DDM^TM platform
• Executed targeted cost actions in April, modestly reducing headcount and operating spend as Ai-driven productivity improvements enabled us to streamline workflows while maintaining investment in key growth areas
• Reaffirmed commitment to profitable growth, expecting to approach adjusted EBITDA breakeven by the end of 2026 and cross over to positive adjusted EBITDA in the second half of 2027

2026 Financial Outlook

Based on information as of today, SOPHiA GENETICS is reaffirming the following guidance:

• Full year revenue between $92 million and $94 million, representing approximately 20% to 22% year-over-year growth compared to FY 2025
• Adjusted EBITDA loss between $29 million and $32 million, compared to $41.5 million in FY 2025

Earnings Call and Webcast Information

SOPHiA GENETICS will host a conference call and live webcast to discuss the first quarter 2026 results on Tuesday, May 5, 2026, at 8:00 a.m. (08:00) Eastern Time / 2:00 p.m. (14:00) Central European Time. The call will be webcast live on the SOPHiA GENETICS Investor Relations website, ir.sophiagenetics.com. Additionally, an audio replay of the conference call will be available on the SOPHiA GENETICS website after its completion.

Non-IFRS Financial Measures

Other than with respect to revenue, the Company only provides guidance on a non-IFRS basis. The Company does not provide a reconciliation of forward-looking adjusted gross margin (non-IFRS measure) to gross margin (the most comparable IFRS financial measure), due to the inherent difficulty in forecasting and quantifying amortization of capitalized research & development expenses that are necessary for such reconciliation. In addition, the Company does not provide a reconciliation of forward-looking adjusted EBITDA (non-IFRS measure) to loss for the period (the most comparable IFRS financial measure), due to the inherent difficulty in forecasting and quantifying depreciation expense, amortization of capitalized research & development expenses and intangible assets, interest income, interest expense, fair value adjustments on warrants, income taxes, foreign exchange gains or losses, share-based compensation expenses, social charges on share-based compensation, the non-cash portion of pensions paid in excess of actual contributions, certain transaction costs and litigation expenses that are necessary for such reconciliation.

To provide investors with additional information regarding the company’s financial results, SOPHiA GENETICS has disclosed here and elsewhere in this earnings release the following non-IFRS measures:

• Adjusted gross profit, which the company calculates as revenue minus cost of revenue adjusted to exclude amortization of capitalized research and development expenses;
• Adjusted gross profit margin, which the company calculates as adjusted gross profit as a percentage of revenue;
• Adjusted EBITDA, which the company calculates as loss for the period before depreciation, amortization, interest income, interest expense, fair value adjustments on warrant obligations, foreign exchange (losses) gains, net, income tax (expense) benefit, share-based compensation expense, social charges on share-based compensation, non-cash pension expenses, certain transaction costs and litigation expenses.

These non-IFRS measures are key measures used by SOPHiA GENETICS management and board of directors to evaluate its operating performance and generate future operating plans. The exclusion of certain expenses facilitates operating performance comparability across reporting periods by removing the effect of non-cash expenses and certain variable charges. Accordingly, the company believes that these non-IFRS measures provide useful information to investors and others in understanding and evaluating its operating results in the same manner as its management and board of directors.

These non-IFRS measures have limitations as financial measures, and you should not consider them in isolation or as a substitute for analysis of SOPHiA GENETICS’ results as reported under IFRS. Some of these limitations are:

• These non-IFRS measures exclude the impact of depreciation. Although depreciation is a non-cash charge, the assets being depreciated may need to be replaced in the future and these non-IFRS measures do not reflect capital expenditure requirements for such replacements or for new capital expenditures;
• These non-IFRS measures exclude the impact of interest expense. Interest expense will continue to be for the foreseeable future a recurring expense based on the company’s financial liabilities;
• These non-IFRS measures exclude the impact of interest income. Interest income will continue to be for the foreseeable future recurring income based on the company’s financial assets;
• These non-IFRS measures exclude the impact of income taxes. Income taxes will continue to be for the foreseeable future a recurring expense incurred in the various jurisdictions in which the company operates;
• These non-IFRS measures exclude the impact of foreign exchange gains (losses),net. Foreign exchange gains and losses will continue to be for the foreseeable future a recurring expense incurred as the company participates in transactions outside of the company’s functional currency;
• These non-IFRS measures exclude the impact of fair value adjustments of warrant obligations. Fair value adjustments on warrant obligations will continue to be for the foreseeable future a recurring expense incurred as the company has outstanding warrant obligations;
• These non-IFRS measures exclude the impact of amortization of capitalized research and development expenses and intangible assets. Amortization of these assets will continue to be for the foreseeable future a recurring expense incurred as the Company continues to invest in developing revenue-generating products through research and development. Although amortization is a non-cash charge, the assets being amortized may need to be replaced in the future and these non-IFRS measures do not reflect capital expenditure requirements for such replacements or for new capital expenditures;
• These non-IFRS measures exclude the impact of share-based compensation expenses. Share-based compensation has been, and will continue to be for the foreseeable future, a recurring expense in the company’s business and an important part of its compensation strategy;
• These non-IFRS measures exclude the impact of social charges related to share-based compensation. These social charges have been, and will continue to be for the foreseeable future, a recurring expense in the company’s business;
• These non-IFRS measures exclude the impact of the non-cash portion of pensions paid in excess of actual contributions to match actuarial expenses. Pension expenses have been, and will continue to be for the foreseeable future, a recurring expense in the business;
• These non-IFRS measures exclude the impact of certain capital markets transaction costs.  These costs may occur from time to time in the future as needed to complete the transactions;
• These non-IFRS measures exclude the impact of litigation expenses related to the company's defense of lawsuits filed by Guardant Health.  These expenses are expected to continue for the duration of the litigation and may increase in future periods;and
• Other companies, including companies in the company’s industry, may calculate these non-IFRS measures differently, which reduces their usefulness as comparative measures.

Because of these limitations, you should consider these non-IFRS measures alongside other financial performance measures, including various cash flow metrics, net income and other IFRS results.

The tables below provide the reconciliation of the most comparable IFRS measures to the non-IFRS measures for the periods presented.

Presentation of Constant Currency Revenue

SOPHiA GENETICS operates internationally, and its revenues are generated primarily in the U.S. dollar, the euro and Swiss franc and, to a lesser extent, British pound, Australian dollar, Brazilian real, Turkish lira and Canadian dollar depending on the company’s customers’ geographic locations. Changes in revenue include the impact of changes in foreign currency exchange rates. We present the non-IFRS financial measure “constant currency revenue” (or similar terms such as constant currency revenue growth) to show changes in revenue without giving effect to period-to-period currency fluctuations. Under IFRS, revenues received in local (non-U.S. dollar) currencies are translated into U.S. dollars at the average monthly exchange rate for the month in which the transaction occurred. When the company uses the term “constant currency”, it means that it has translated local currency revenues for the current reporting period into U.S. dollars using the same average foreign currency exchange rates for the conversion of revenues into U.S. dollars that we used to translate local currency revenues for the comparable reporting period of the prior year. The company then calculates the difference between the IFRS revenue and the constant currency revenue to yield the “constant currency impact” for the current period.

The company’s management and board of directors use constant currency revenue growth to evaluate growth and generate future operating plans. The exclusion of the impact of exchange rate fluctuations provides comparability across reporting periods and reflects the effects of customer acquisition efforts and land-and-expand strategy. Accordingly, it believes that this non-IFRS measure provides useful information to investors and others in understanding and evaluating revenue growth in the same manner as the management and board of directors. However, this non-IFRS measure has limitations, particularly as the exchange rate effects that are eliminated could constitute a significant element of its revenue and could significantly impact performance and prospects. Because of these limitations, you should consider this non-IFRS measure alongside other financial performance measures, including revenue and revenue growth presented in accordance with IFRS and other IFRS results.

The table below provides the reconciliation of the most comparable IFRS growth measures to the non-IFRS growth measures for the current period.

About SOPHiA GENETICS

SOPHiA GENETICS (Nasdaq: SOPH) is an Ai-native healthcare technology company on a mission to transform patient care by expanding access to data-driven medicine globally. It is the creator of SOPHiA DDM™, an Ai platform that analyzes complex genomic and multimodal data to generate real-time, real-world insights for a broad global network of hospital, laboratory, and biopharma institutions. For more information, visit SOPHiAGENETICS.COM and connect with us on LinkedIn.

Forward-Looking Statements

This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding SOPHiA GENETICS future results of operations and financial position, business strategy, products and technology, partnerships and collaborations, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on SOPHiA GENETICS’ management’s beliefs and assumptions and on information currently available to the company’s management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in the company’s filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of its date. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in the company’s expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

Investor and Media Contact:

Kellen Sanger

[email protected]

[email protected]

Delivering reliable exome results at scale demands more than sequencing and data analytics performance alone. It requires an integrated, standardized workflow that carries data seamlessly from library preparation through to confident variant interpretation. Yet many research laboratories continue to struggle with fragmented pipelines, inconsistent quality, and interpretation bottlenecks that slow the time to answers.

In this webinar, Mgr. Helena Paszeková from GHC Genetics will showcase how her laboratory implemented an end-to-end exome workflow into their daily operations. Drawing on her experience managing high testing volumes across rare and inherited disorders, she will describe how integrating ELEMENT AVITI™ sequencing with the SOPHiA DDM™ Clinical Exome v3 and Whole Exome v2 Solutions has transformed efficiency, consistency, and turnaround times at GHC Genetics.

Through concrete examples, attendees will see how a unified, standardized approach drives reliable results and can accelerate the path from sequencing data to clinical insights.

Key takeaways from the webinar include:

• Why GHC Genetics’ laboratory testing volumes shaped the need for an integrated and standardized exome workflow.
• How the combination of ELEMENT AVITI™ sequencing and data analysis with the SOPHiA DDM™ Platform streamlines data flow, reduces hands-on time, and supports consistent, high-confidence variant interpretation.
• Real-world case examples illustrating the direct impact of an end-to-end workflow.

Speakers:

• Helena Paszeková, Researcher, GHC Genetics
• Sevana Yaghoubian, Senior Director of Genomics Product Management, SOPHiA GENETICS
• Alocha van den Houte, Senior Field Application Specialist, Element Biosciences

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​

• Understand the rationale behind the development of a comprehensive application for myeloid malignancies​
• Learn how SOPHiA DDM™ MYS2 has complemented and streamlined cytogenetic workflows at LEB​
• Explore its impact on the detection of chromosomal aberrations compared to standard cytogenetic methods​
• Discover patient cases where the comprehensive NGS profiling has a meaningful impact​
• Gain perspectives on the future of integrated molecular and cytogenetic analysis for diagnostic insights​

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

BOSTON, United States and ROLLE, Switzerland, April 21, 2026 — SOPHiA GENETICS (Nasdaq: SOPH), a global leader in AI-driven precision medicine, today announced it will release its financial results for the first quarter 2026 before U.S. markets open on Tuesday, May 5, 2026. On that day, SOPHiA GENETICS will host a conference call to discuss its financial results as well as business outlook beginning at 8:00 a.m. (08:00) EDT / 2:00 p.m. (14:00) CET.

The call will be webcast live on the SOPHiA GENETICS Investor Relations Website. Additionally, a replay will be available on the website after its completion.

SOPHiA GENETICS and Myriad Genetics have joined forces in a unique partnership combining Myriad’s centralized CDx and regulatory expertise with SOPHiA GENETICS’ decentralized, data-driven platform.

In this engager we explore how a groundbreaking industry collaboration is rethinking current CDx approaches through a hybrid model designed for rapid scalability and access to precision medicine. Attendees will:

• Discover SOPHiA GENETICS’ and Myriad Genetics’ first-of-its kind CDx partnership model to unlock scale, regulatory compliance, and access to precision diagnostics and therapies.
• Gain insights into what a co-development strategy for CTA and CDx looks like in practice and how it enables simultaneous development and deployment at a central lab.
• Understand how Pharma-Diagnostics collaborations can support late-stage clinical development through commercialization.

Topics:

• The Hybrid CDx Model: A New Paradigm for Pharma Partnerships
• The Business Structure Behind SOPHiA GENETICS and Myriad Genetics Alliance
• Co-Developing a CTA-CDx: What Does it Look Like in Practice?
• From Single-Site CDx to a Global Distributed Kit: Scaling with the SOPHiA GENETICS Vision
• Going Beyond a Single Test: Expanding Myriad Genetics’ Portfolio
• Panel Discussion: Is a Hybrid Model the Future?

Speakers:

• Kristina McGuire – Executive Director & Head, Precision Medicine Laboratory Operations & Companion Diagnostics, Regeneron
• Lou Welebob – Senior Vice President of BioPharma Companion Diagnostics, Myriad Genetics
• Jess Lambe - Vice President & Managing Director, BioPharma Business Development, SOPHiA
• Vern Geckler – Senior Director, Alliance Management, Myriad Genetics
• Julien Pontis - Head of CDx & Clinical Diagnostics, SOPHiA GENETICS
• Drew Gibbs – Vice President, Business Development, Myriad Genetics
• Yves Serroen - Director, BioPharma Business Development, SOPHiA GENETICS
• Janni Mirosevich – Senior Director, BioPharma Business Development, SOPHiA GENETICS
• Dale Muzzey – Chief Scientific Officer, Myriad Genetics
• Jonathan Beer – Senior Director, Precision Medicine, Bristol Myers Squibb
• Brian Baker – Executive Director, Regulatory Affairs, In Vitro Diagnostics, Regeneron
• Michael Senior – Senior Director, Diagnostic Partnerships, Oncology Business Unit, AstraZeneca

Scientific innovation and the unprecedented surge in health data generated every day are transforming our understanding of disease and reshaping the future of precision medicine. As FDA-approved biomarker-targeted therapies continue to expand rapidly, BioPharma companies face increasing pressure to bring them to the market faster to the patients who need them the most. As such, the delivery of robust, accurate, and scalable end-to-end diagnostic solutions across the globe has become essential.

In this talk, we will explore how SOPHiA GENETICS empowers BioPharma to advance precision medicine by harnessing AI-powered analytics and next-generation genomics solutions, improving access to new therapies worldwide and helping close critical health equity gaps.

• Explore current patient identification challenges across the drug development process and practical implementation models to address them, while navigating an evolving regulatory landscape.
• Discover how to unlock SOPHiA DDM™ potential to optimize and accelerate drug development and commercialization by combining AI-powered technology, a vast decentralized network, and a comprehensive portfolio of NGS-based assays.
• Learn about our groundbreaking partnerships that enable faster, more efficient, and scalable CDx development and commercialization.

Speaker:

Jess Lambe, MBA
VP & Managing Director BioPharma Business Development, SOPHiA GENETICS

Pharmacogenomics has been invaluable in reducing adverse drug reactions, improving dosing accuracy and increasing confidence in treatment selection across high risk and commonly prescribed medications. However, real-world implementation of pharmacogenomics is extremely challenging.

This webinar will use a case study, featuring real-world clinical data, to outline how pharmacogenomics testing through NGS can improve detection of variants, and support safer, more confident decision-making.

Case study

Fluoropyrimidines like 5-FU remain essential in oncology, but patient safety depends on efficient DPD metabolism. Standard genotyping captures only a small subset of DPYD variants, while NGS can uncover broader variability with potential clinical relevance.

In this webinar Dr. Nicolas Picard (University Hospital of Limoges) will present results from an NGS research study of 1,145 patients using the SOPHiA DDM™ Community PGx Solution, highlighting rare variants and CNVs that standard testing may miss - an important consideration following the FDA’s recent boxed warning for capecitabine.

Sevana Yaghoubian will then introduce SOPHiA GENETICS’ new extended PGx application covering 74 genes with star allele detection and integrated HLA and mtDNA analysis.

In this webinar, you will:

• Develop a better understanding of how comprehensive NGS-based pharmacogenomics testing can improve variant detection and support safer, more confident decision-making.
• Learn from a recent research study - featuring real-life clinical data - that focuses on enhancing the safety of chemotherapy.
• Draw lessons from the clinical experience of a world leader in pharmacogenomics testing, Nicolas Picard, from the University Hospital of Limoges in France.
• Understand how the cutting-edge SOPHiA DDM™ pharmacogenomics technology supports variant detection and analysis workflows.

Speakers

Nicolas Picard, PharmD, PhD, Head of French Speaking Network of Pharmacogenetics (RNPGx), Limoges University Hospital, France

Nicolas Picard is full professor of pharmacology at the Faculty of Pharmacy, University of Limoges (France), and hospital biologist in the Department of pharmacology, toxicology and pharmacovigilance at Limoges University Hospital. A pharmacist since 2002, he obtained his PhD in Pharmacology in 2005. He heads the Department of physiology and pharmacology at the Faculty of Pharmacy, where he teaches fundamental and clinical pharmacology, and is jointly responsible for the molecular genetics unit of the University Hospital, leading its clinical pharmacogenetics section. His research within the Inserm “Pharmacology & Transplantation” Unit has evolved from in vitro studies of drug metabolism and disposition to clinical research, and now focuses primarily on the implementation of pharmacogenetics in transplantation, psychiatry, and geriatrics. He has authored around 100 peer-reviewed publications and currently serves as President of the Francophone Network of Pharmacogenetics (RNPGx) which brings together experts from France, Belgium, Switzerland, Tunisia, and Quebec.

Sevana Yaghoubian, Senior Director of Genomics Product Management, SOPHiA GENETICS

Sevana Yaghoubian has extensive experience in the field of genomics and molecular diagnostics. She is currently a Senior Director of Genomics Product Management at SOPHiA GENETICS, where they lead a team and is responsible for various aspects of product management, marketing, and business development. During her time at SOPHiA GENETICS, she achieved significant growth and successfully launched several new products in the areas of oncology, rare diseases, and precision medicine. Sevana Yaghoubian holds an MSc in Molecular Biology from the University of Toronto.

Whole-exome sequencing (WES) is widely used in both clinical and research settings, but current implementations require trade-offs between genomic breadth, sensitivity, and workflow complexity. As a result, labs typically maintain multiple assays to meet different kinds of testing.

In this GEN webinar, Guilherme Yamamoto, MD, PhD, and Sevana Yaghoubian will present a novel whole-exome assay for detecting high-confidence variants across multiple applications. Using examples from rare diseases, newborn and carrier screening, and targeted analysis for cardiovascular, neurological, ocular, and metabolic disorders, they will explore how combining targeted probe enhancements with robust analytics improves performance in challenging genomic regions. They will also discuss how these enhanced exome assays can extend beyond germline testing through secondary screening for common somatic variants in hematologic cancers. Key takeaways from the webinar include:

• How innovations in enhanced WES are reducing hands-on time, and optimizing costs, and scalability for diverse testing
• Practical considerations for whole exome project design for advanced clinical and research applications using the SOPHiA DDM™ Enhanced Whole Exome solution
• How enhanced assays extend beyond germline testing to include secondary somatic variant screening

Speakers:

Guilherme Yamamoto, MD, PhD
Head of Genomics and Bioinformatics Innovation
Dasa

Sevana Yaghoubian, MSc
Senior Director Genomics
SOPHiA GENETICS