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BOSTON, United States and ROLLE, Switzerland, August 4, 2026 — SOPHiA GENETICS (Nasdaq: SOPH), a global leader in AI-driven precision medicine, today reported financial results for the second quarter ended June 30, 2026.
Second Quarter 2026 Financial Highlights
“We delivered an outstanding second quarter, growing revenue 27% year-over-year, while also improving adjusted EBITDA loss by 27%,” said Ross Muken, Chief Executive Officer of SOPHiA GENETICS. “Strong revenue performance was driven by 60% volume growth in the U.S., 70% volume growth in Liquid Biopsy, and accelerating growth in BioPharma. BioPharma growth is well-positioned to continue into 2027, as today we announce the signing of two companion diagnostic programs with AstraZeneca, the first ever in SOPHiA GENETICS' history."
Muken added, “As I step into the role of CEO, my focus will be on converting our world-class AI platform, a hard-won global network, and a decade of scientific credibility into accelerating, profitable growth for years to come. To achieve these goals, we strengthened our balance sheet with an oversubscribed $57.5 million public offering in Q2, providing sufficient capital to reach our business objectives and invest in long-term growth.”
Business Highlights
Expanding with existing customers
Landing new customers to fuel future growth
Accelerating growth in the U.S. market
Scaling growth with new applications
Developing partnerships to fuel growth
Building BioPharma partnerships
Driving operational excellence
2026 Financial Outlook
Based on information as of today, SOPHiA GENETICS expects:
Earnings Call and Webcast Information
SOPHiA GENETICS will host a conference call and live webcast to discuss the second quarter 2026 results on Tuesday, August 4, 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, litigation expenses and restructuring costs 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:
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:
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]
SOPHiA GENETICS SA
Interim Condensed Consolidated Statements of Loss
(Amounts in USD thousands, except per share data)
(Unaudited)
| Three months ended June 30, | Six months ended June 30, | |||
|---|---|---|---|---|
| 2026 | 2025 | 2026 | 2025 | |
| Revenue | $ 23,310 | $ 18,323 | $ 44,998 | $ 36,102 |
| Cost of revenue | (8,249) | (6,053) | (15,188) | (11,624) |
| Gross profit | 15,061 | 12,270 | 29,810 | 24,478 |
| Research and development costs | (8,731) | (8,493) | (18,191) | (17,611) |
| Selling and marketing costs | (11,186) | (10,034) | (19,999) | (17,568) |
| General and administrative costs | (15,202) | (12,301) | (28,961) | (23,901) |
| Other operating income, net | 5 | 66 | 5 | 74 |
| Operating loss | (20,053) | (18,492) | (37,336) | (34,528) |
| Interest income | 231 | 419 | 520 | 869 |
| Interest expense | (1,620) | (559) | (3,287) | (1,218) |
| Fair value adjustments on warrant obligations | (317) | 58 | (409) | 20 |
| Foreign exchange losses, net | (519) | (3,078) | (835) | (3,677) |
| Loss before income taxes | (22,278) | (21,652) | (41,347) | (38,534) |
| Income tax expense | (78) | (762) | (331) | (1,265) |
| Loss for the period | (22,356) | (22,414) | (41,678) | (39,799) |
| Attributable to the owners of the parent | (22,356) | (22,414) | (41,678) | (39,799) |
| Basic and diluted loss per share | $ (0.30) | $ (0.33) | $ (0.58) | $ (0.59) |
SOPHiA GENETICS SA
Interim Condensed Consolidated Statements of Comprehensive Loss
(Amounts in USD thousands)
(Unaudited)
| Three months ended June 30, | Six months ended June 30, | |||
|---|---|---|---|---|
| 2026 | 2025 | 2026 | 2025 | |
| Loss for the period | $ (22,356) | $ (22,414) | $ (41,678) | $ (39,799) |
| Other comprehensive (loss) income: | ||||
| Items that may be reclassified to statement of loss | ||||
| Currency translation adjustments | (81) | 9,016 | (611) | 11,602 |
| Total items that may be reclassified to statement of loss | (81) | 9,016 | (611) | 11,602 |
| Items that will not be reclassified to statement of loss (net of tax) | ||||
| Remeasurement of defined benefit plans | 317 | 46 | 440 | 93 |
| Total items that will not be reclassified to statement of loss | 317 | 46 | 440 | 93 |
| Other comprehensive (loss) income for the period | $ 236 | $ 9,062 | $ (171) | $ 11,695 |
| Total comprehensive loss for the period | $ (22,120) | $ (13,352) | $ (41,849) | $ (28,104) |
| Attributable to owners of the parent | $ (22,120) | $ (13,352) | $ (41,849) | $ (28,104) |
SOPHiA GENETICS SA
Interim Condensed Consolidated Balance Sheets
(Amounts in USD thousands)
(Unaudited)
| June 30, 2026 | December 31, 2025 | |
|---|---|---|
| Assets | ||
| Current assets | ||
| Cash and cash equivalents | $ 107,665 | $ 70,289 |
| Accounts receivable | 14,112 | 15,001 |
| Inventory | 7,084 | 6,351 |
| Prepaids and other current assets | 8,429 | 7,438 |
| Total current assets | 137,290 | 99,079 |
| Non-current assets | ||
| Property and equipment | 4,903 | 5,665 |
| Intangible assets | 36,163 | 35,891 |
| Right-of-use assets | 11,039 | 12,382 |
| Deferred tax assets | 1,769 | 1,831 |
| Other non-current assets | 7,195 | 8,183 |
| Total non-current assets | 61,069 | 63,952 |
| Total assets | $ 198,359 | $ 163,031 |
| Liabilities and equity | ||
| Current liabilities | ||
| Accounts payable | $ 11,904 | $ 8,960 |
| Accrued expenses | 18,699 | 20,736 |
| Deferred contract revenue | 15,616 | 16,720 |
| Lease liabilities, current portion | 2,720 | 2,700 |
| Warrant obligations | 2,144 | 1,412 |
| Total current liabilities | 51,083 | 50,528 |
| Non-current liabilities | ||
| Borrowings | 47,999 | 47,733 |
| Lease liabilities, net of current portion | 11,108 | 12,587 |
| Defined benefit pension liabilities | 3,822 | 4,162 |
| Other non-current liabilities | 1,229 | 876 |
| Total non-current liabilities | 64,158 | 65,358 |
| Total liabilities | 115,241 | 115,886 |
| Equity | ||
| Share capital | 4,814 | 4,814 |
| Share premium | 542,657 | 473,675 |
| Treasury shares | (183) | (1,218) |
| Other reserves | 96,784 | 89,150 |
| Accumulated deficit | (560,954) | (519,276) |
| Total equity | 83,118 | 47,145 |
| Total liabilities and equity | $ 198,359 | $ 163,031 |
SOPHiA GENETICS SA
Interim Condensed Consolidated Statements of Cash Flows
(Amounts in USD thousands)
(Unaudited)
| Six months ended June 30, | ||
|---|---|---|
| 2026 | 2025 | |
| Operating activities | ||
| Loss before tax | $ (41,347) | $ (38,534) |
| Adjustments for non-monetary items | ||
| Depreciation | 2,159 | 1,927 |
| Amortization | 3,499 | 2,740 |
| Finance expense, net | 3,354 | 4,037 |
| Fair value adjustments on warrant obligations | 409 | (20) |
| Expected credit loss allowance increase (reversal) | 40 | 252 |
| Share-based compensation | 7,805 | 8,191 |
| Movements in provisions and pensions | 440 | 304 |
| Research tax credit | (441) | (528) |
| Working capital changes | ||
| Decrease (increase) in accounts receivable | 589 | (1,298) |
| Decrease (increase) in prepaids and other assets | 628 | 934 |
| Decrease (increase) in inventory | (1,123) | 362 |
| Increase (decrease) in accounts payables, accrued expenses, deferred contract revenue, and other liabilities | 1,227 | 2,815 |
| Cash used in operating activities | (22,761) | (18,818) |
| Income tax paid | (51) | (146) |
| Net cash flows used in operating activities | (22,812) | (18,964) |
| Investing activities | ||
| Purchase of property and equipment | (1,026) | (130) |
| Acquisition of intangible assets | — | (87) |
| Capitalized development costs | (4,541) | (3,250) |
| Interest received | 520 | 876 |
| Net cash flow used in investing activities | (5,047) | (2,591) |
| Financing activities | ||
| Proceeds from exercise of share options | 1,233 | 115 |
| Interest paid | (2,715) | (1,240) |
| Proceeds from borrowings, net of transaction costs | — | 34,563 |
| Proceeds from sale of common stock in at-the-market offering, net of transaction costs | 15,667 | — |
| Proceeds from sale of common stock in follow-on offering, net of transaction costs | 54,048 | — |
| Payments of principal portion of lease liabilities | (1,201) | (889) |
| Net cash flow provided by/(used in) financing activities | 67,032 | 32,549 |
| Increase (decrease) in cash and cash equivalents | 39,173 | 10,994 |
| Effect of exchange differences on cash balances | (1,797) | 3,602 |
| Cash and cash equivalents at beginning of the period | 70,289 | 80,226 |
| Cash and cash equivalents at end of the period | $ 107,665 | $ 94,822 |
SOPHiA GENETICS SA
Reconciliation of IFRS Net Loss to Adjusted EBITDA
(Amounts in USD thousands)
(Unaudited)
| Three months ended June 30, | Six months ended June 30, | |||
|---|---|---|---|---|
| 2026 | 2025 | 2026 | 2025 | |
| IFRS loss for the period | $ (22,356) | $ (22,414) | $ (41,678) | $ (39,799) |
| Exclude the impact of: | ||||
| Depreciation | $ 1,080 | $ 942 | $ 2,159 | $ 1,927 |
| Amortization(3)(4) | 1,827 | 1,428 | 3,499 | 2,740 |
| Interest income | (231) | (419) | (520) | (869) |
| Interest expense | 1,620 | 559 | 3,287 | 1,218 |
| Fair value adjustments on warrant obligations | 317 | (58) | 409 | (20) |
| Foreign exchange losses, net | 519 | 3,078 | 835 | 3,677 |
| Income tax expense | 78 | 762 | 331 | 1,265 |
| Share-based compensation expense(1) | 4,492 | 4,356 | 7,805 | 8,191 |
| Social charges related to share-based compensation(7) | 1,240 | (360) | 2,308 | (5) |
| Non-cash pension expense(2) | 72 | 89 | 163 | 175 |
| Transaction costs(5) | 123 | — | 291 | — |
| Litigation expenses(6) | 1,130 | — | 1,819 | — |
| Restructuring costs(8) | 1,255 | — | 1,255 | — |
| Adjusted EBITDA | $ (8,834) | $ (12,037) | $ (18,037) | $ (21,500) |
SOPHiA GENETICS SA
Reconciliation of IFRS Revenue Growth to Constant Currency Revenue Growth
(Amounts in USD thousands, except for %)
(Unaudited)
| Three months ended June 30, | Six months ended June 30, | |||||
|---|---|---|---|---|---|---|
| 2026 | 2025 | Growth | 2026 | 2025 | Growth | |
| IFRS revenue | $ 23,310 | $ 18,323 | 27% | $ 44,998 | $ 36,102 | 25% |
| Current period constant currency impact | (454) | — | (1,936) | — | ||
| Constant currency revenue | $ 22,856 | $ 18,323 | 25% | $ 43,062 | $ 36,102 | 19% |
SOPHiA GENETICS SA
Reconciliation of IFRS to Adjusted Gross Profit and Gross Profit Margin
(Amounts in USD thousands, except percentages)
(Unaudited)
| Three months ended June 30, | Six months ended June 30, | |||
|---|---|---|---|---|
| 2026 | 2025 | 2026 | 2025 | |
| Revenue | $ 23,310 | $ 18,323 | $ 44,998 | $ 36,102 |
| Cost of revenue | (8,249) | (6,053) | (15,188) | (11,624) |
| Gross profit | $ 15,061 | $ 12,270 | $ 29,810 | $ 24,478 |
| Amortization of capitalized research and development expenses(3) | 1,757 | 1,357 | 3,359 | 2,598 |
| Adjusted gross profit | $ 16,818 | $ 13,627 | $ 33,169 | $ 27,076 |
| Gross profit margin | 64.6% | 67.0% | 66.2% | 67.8% |
| Amortization of capitalized research and development expenses(3) | 7.5% | 7.4% | 7.5% | 7.2% |
| Adjusted gross profit margin | 72.1% | 74.4% | 73.7% | 75.0% |
BOSTON and ROLLE – August 4, 2026 – SOPHiA GENETICS (NASDAQ: SOPH) today announced a new global collaboration to develop, validate, and deploy two companion diagnostics (CDx) supporting precision oncology therapies with AstraZeneca (LSE/STO/NYSE: AZN).
This multi-year collaboration agreement will advance the development and commercialization of two companion diagnostic programs, bringing SOPHiA GENETICS’s decentralized clinical trial assays and companion diagnostic capabilities to AstraZeneca therapies.
As part of the collaboration, SOPHiA GENETICS will develop its Solid Tumor application into a decentralized companion diagnostic. In addition, the company will develop and validate its Hematological Oncology application to support a companion diagnostic program for patients with blood cancer.
“A breakthrough therapy only matters to the patients we can find in time to treat. We are moving towards a future that no longer depends on geography, where any laboratory can run the same test to the same high standard on day one of a launch. We believe these programs are what that future looks like in practice. Bringing the right therapy to the right patient, in any country and any laboratory, is the work that will define the next generation of precision medicine,” said Ross Muken, CEO, SOPHiA GENETICS.
By combining accurate biomarker detection with rapid deployment, SOPHiA GENETICS aims to shorten the distance between a new therapy and the patients who need it. Through its global data-driven platform, insights generated from patient populations can help advance informed clinical decision-making across healthcare systems. This vision of connected, data-driven medicine underpins these programs, with the goal of expanding access to innovative treatments and improving outcomes for patients worldwide.
About SOPHiA GENETICS Companion Diagnostics
SOPHiA GENETICS end-to-end diagnostic capabilities span the drug development and launch continuum:
SOPHiA GENETICS’s technology-agnostic, cloud-based platform lets healthcare institutions run the same validated, AI-powered analysis locally, while sharing and benefiting from the collective intelligence of a global network of more than 1,000 connected institutions across over 75 countries. For a pharmaceutical partner preparing a global launch, that means a companion diagnostic that can be available in the local lab on day one of drug approval.
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.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. The information in this press release is 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 [email protected] to obtain the appropriate product information for your country of residence.
SOPHiA GENETICS 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 our future results of operations and financial position, business strategy, products, and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management’s beliefs and assumptions and on information currently available to our 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 our 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 the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our 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.
Media and Investor Contact
Kellen Sanger
[email protected]
[email protected]
Clonal hematopoiesis of indeterminate potential (CHIP) is an increasingly recognized challenge in liquid biopsy analysis. Somatic variants arising in hematopoietic progenitor cells can appear in cell-free DNA (cfDNA) analyses, mimicking tumor-derived signals and complicating result interpretation. Correctly assigning these variants is critical – both to avoid false tumor calls and to capture CHIP's emerging role as an independent biomarker for cancer risk and outcomes.
MSK-ACCESS® powered with SOPHiA DDM™ incorporates matched white blood cell (WBC) DNA sequencing to systematically distinguish CHIP and germline variants from true tumor-derived signals. In this poster presentation, Florian Klemm shares findings from a multicenter, retrospective study evaluating CHIP detection across different cfDNA analysis approaches in individuals with colorectal, prostate, pancreatic, and breast cancer. This research was conducted in collaboration with Synnovis, UK.
Watch to discover:
Presenter
Florian Klemm, Technical Product Manager Expert Lead, SOPHiA GENETICS, Rolle, Switzerland
Dr. Florian Klemm is a physician-scientist and tumor immunologist with deep expertise in next‑generation sequencing (NGS), liquid biopsy technologies, and translational oncology. As a Technical Product Manager Expert Lead at SOPHiA GENETICS, he drives the product design of decentralized cfDNA NGS solutions. Most notably, he has led the development of MSK‑ACCESS® powered with SOPHiA DDM™ where he led cross‑functional teams spanning assay development, bioinformatics, tertiary annotation, and software.
With more than a decade of research experience across the Ludwig Institute for Cancer Research at the University of Lausanne, Switzerland, Memorial Sloan Kettering Cancer Center, New York, USA and the University of Göttingen, Germany, Florian has an extensive track record applying NGS, multidimensional genomics, spatial tissue analysis, and large‑scale datasets to advance understanding of tumor biology and tumor–immune interactions. His first‑author publication in Cell (2020) highlights his contributions to mapping immune cell states in brain malignancies. He is passionate about bridging clinical insight, high‑throughput technologies, and data‑driven approaches to deliver impactful solutions that improve patient outcomes.
Copy number variants (CNVs) are increasingly recognized as clinically significant biomarkers across a wide range of tumor types, with emerging evidence supporting their role in prognosis, therapeutic stratification, and disease characterization. Despite advances in CGP, accurate CNV detection and interpretation in solid tumors remains challenging, owing to tumor heterogeneity, assay complexity, and inconsistent analytical approaches.
In this webinar, participants will explore current challenges and considerations associated with CNV detection and interpretation in precision oncology research. Through real-world examples and discussion of CGP strategies, the webinar will examine approaches for improving scalability, consistency, and confidence in biomarker characterization.
Join us to gain insight into evolving approaches for CGP and the role of CNV analysis in advancing precision oncology research.
At the conclusion of this session, participants will be able to:
Presenter
Dr. Rami Mahfouz MD, MPH, IFCAP
Professor of Molecular Pathology, Head of Division of Clinical Pathology, Director of Molecular Diagnostics Laboratory, American University of Beirut, Lebanon
Dr. Lina Li, PhD, MBA
Director of Product for Solid Tumors, SOPHiA GENETICS
Evidence-based interpretation of oncogenic variants represents one of the most demanding and time-consuming tasks carried out by clinical laboratories today. The volume of emerging clinical evidence,and the multiplication of evidence sources across fragmented platforms, combined with the need fortimely and accurate reporting, places considerable pressure on laboratory workflows and the professionals who lead them.
In this webinar, Dr. Sara Allegrini, Head of Molecular Pathology at TomaLab, one of the largest genetic laboratories in Italy, examines how the integration of OncoPortal™ Knowledge Base within SOPHiADDM™ has reshaped their approach to oncology variant interpretation. The session draws on Dr.Allegrini's real-world experience to trace the laboratory's workflow evolution, from their previous use of OncoPortal™ Plus as a standalone module to the adoption of a fully integrated solution.
Dr. Allegrini will share first-hand insights into the challenges of evidence-based interpretation at scale,the criteria that guided TomaLab's adoption of OncoPortal™ Knowledge Base, and the impact observedon reporting efficiency and interpretation confidence. The session will also illustrate the value of the platform through concrete case examples, including rare alterations and complex findings where accessto curated, current evidence proved decisive.
At the conclusion of this session, participants will be able to:
Presenter
Dr. Sara Allegrini, Molecular Biologist, Leading the Somatic Molecular Diagnostics Unit at a specialized pathology laboratory
Dr. Sara Allegrini is a molecular biologist and expert in precision oncology, currently leading the Somatic Molecular Diagnostics Unit at a specialized pathology laboratory. With over a decade of experience in molecular diagnostics and cancer genomics, she plays a key role in integrating advanced technologies such as next-generation sequencing into routine clinical practice.
She holds a PhD in Molecular Medicine and a specialization in Clinical Pathology, complemented by a recent advanced Master’s degree in Molecular Pathology and Molecular Tumor Boards. Her expertise spans next-generation sequencing, molecular oncology, and precision medicine, with a strong focus on the interpretation of somatic variants in cancer. Her work focuses on the clinical interpretation of somatic variants and their application in personalized cancer treatment.
She has a strong background in translational research, bridging the gap between laboratory innovation and patient care. She is passionate about advancing precision medicine and improving diagnostic strategies in oncology.
BOSTON, United States and ROLLE, Switzerland, July 21, 2026 — SOPHiA GENETICS (Nasdaq: SOPH), a global leader in Ai-driven precision medicine, today announced it will release its financial results for the second quarter 2026 before U.S. markets open on Tuesday, August 4, 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.
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.
Topics:
Speakers:
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.
You will learn:
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.
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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