Measurable Residual Disease (MRD) is a crucial biomarker for analyzing and tracking tumor evolution, evaluating treatment effectiveness, and predicting relapse in acute myeloid leukemia (AML). Among the various technologies used to detect MRD, next-generation sequencing stands out for its exceptional sensitivity and specificity.

In this webinar, Silvia Salmoiraghi, biologist at ASST Papa Giovanni XXIII Hospital in Bergamo, Italy, discuss the performance of the SOPHiA DDM™ Residual Acute Myeloid (RAM) Solution.

SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native healthcare technology company and a global leader in data-driven medicine, recently joined the European Liquid Biopsy Society (ELBS), a prestigious network consisting of partners from academia and industry with the common goal of making liquid biopsy tests part of the routine standard of care.

SOPHiA GENETICS offers a comprehensive suite of liquid biopsy applications that are helping to progress oncology research and tumor mutation profiling. Liquid biopsy offers an alternative to solid tumor testing by isolating cell-free DNA (cfDNA) from blood plasma. This testing approach allows for non-invasive cancer genomic profiling and disease monitoring, revealing critical insights in cases where tissue biopsy may not be feasible. However, liquid biopsy still faces challenges, including workflow standardization and broad adoption across the globe.

Building on the momentum of the recent launch of MSK-ACCESS® powered with SOPHiA DDM™ earlier this year, we would like to develop a community of knowledge, where peers can connect, share experiences, and hear the latest updates regarding the implementation of decentralized Memorial Sloan Kettering Cancer Center (MSK) applications.

In this webinar, attendees will:

➡️ Learn more about Memorial Sloan Kettering Cancer Center’s and
SOPHiA GENETICS’s strategies to lower liquid biopsy hurdles.

➡️ Learn more about the evolution of MSK-ACCESS® assay.

➡️ Hear about the evidence-generation efforts to demonstrate the clinical utility of MSK-ACCESS® powered with SOPHiA DDM™

➡️ Gain insights into new analytical performance data from early adopters across Europe

➡️ Get the latest updates and discuss our initiative to facilitate sample sharing among centers

Pinpointing pathogenic mutations from large, complex datasets can be difficult, time-consuming, and somewhat overwhelming.

So, how can you streamline your genomic analysis, to make it quicker, easier, and more efficient?

In this webinar you will learn how Alamut™ Visual Plus enables clinical researchers to:

➡️ Resolve splice-site variants using splicing scores and exonic splicing enhancer binding site predictors in a visual interface.

➡️ Conduct familial variant analysis (FVA) for prioritization of germline variants, by excluding those that do not follow Mendelian inheritance patterns.

➡️ Utilize trusted databases, predictors, publications and guidelines, such as the ACMG criteria, for effective genomics interpretation.

➡️ Enhance interpretation through Alamut™ Visual Plus which offers comprehensive annotations and visualization of breakpoints and coverage across different file types in a full genome browser.

➡️ Better understand the significance of a guideline-driven approach to variant nomenclature for consistent analysis and reporting.

Additionally, Rolph Pfundt, a Clinical Molecular Geneticist at Radboud University Medical Centre in the Netherlands, will share insights into his variant interpretation workflow. He will also highlight how Alamut™ Visual Plus enables the identification of complex variants with greater ease and precision.

Decoding Complexity – Overcoming Real-World Challenges in Variant Analysis

Join us for the second episode of our webinar series, where we delve deeper into the complexities of variant analysis. Our esteemed bioinformatics experts will share practical solutions to real-world challenges in this field. Embark on a journey with us as we explore the advanced strategies employed by the SOPHiA DDM™ Platform to detect challenging variants associated with cancers and rare inherited disorders.

Episode 2: Advanced Techniques for Detecting Low Allele Frequency Variants

In this session, we are privileged to host two experts from SOPHiA GENETICS: Lin Song, Director of Algorithm Development, and Yvan Wenger, Manager of Bioinformatic Product Development. The focus of this webinar will be our SOPHiA DDM™ algorithm PEPPER™, which is our proprietary SNV and Indel detection technology. PEPPER™ utilizes a range of techniques to distinguish true signals from noise, ensuring precise variant calling.

Lin will highlight the strategies PEPPER™ employs to detect low allele frequency variants, by ensuring accurate distinction from library preparation and sequencing noise. This capability is crucial, especially in liquid biopsy. Yvan will present a use case demonstrating how PEPPER™ addresses the technical challenges of liquid biopsy, focusing on our application MSK-ACCESS powered with SOPHiA DDM™.

Don’t miss this chance to gain insights into our innovative methodologies for distinguishing signal from noise for low allele frequency variants.

Join us for an enlightening webinar on the evolution of pharmacogenetics, from its historical roots to the impact of groundbreaking innovations and the establishment of specialist foundations. We will explore the introduction of crucial guidelines and annotations that have paved the way for the development of key technologies and solutions in this field. Learn how utilizing next-generation sequencing (NGS) in pharmacogenetics can prevent serious adverse drug reactions and facilitate personalized drug selection and dosing decisions.

Nicolas Picard will share insights into how the French National Network of Pharmacogenetics (RNPGx) is spearheading advancements in pharmacogenetics and how they collaborated with SOPHiA GENETICS to develop a state-of-the-art PGx Solution. Professor Picard will discuss the applications of pharmacogenetics in psychiatry and oncology, presenting practical cases that highlight the real-world impact and value of these advancements.​​

Featured Presenter:​

Nicolas Picard
Professor of Pharmacology, President of RNPGx, Limoges University, France

Welcome to the inaugural episode of our new webinar series - Decoding complexity: Tackling real-world challenges in variant analysis. 

Prepare to embark on an enlightening journey as we tap into the wealth of knowledge possessed by our esteemed bioinformatics experts, who will be sharing practical solutions to real-world challenges in variant analysis. Each installment of this webinar series will explore the strategies employed by the SOPHiA DDM™ Platform to effectively detect challenging variants associated with cancers and rare and inherited disorders. 

Overcoming noise in precision variant analysis 

In this session, we are excited to introduce you to Xiaobin Xing, Director of Bioinformatics, boasting over a decade of invaluable experience at SOPHiA GENETICS. Xiaobin will explain how signal amplification and noise suppression can increase the analytical performance of NGS applications. He will present examples of the strategies employed by SOPHiA DDM™ to accurately detect challenging variants important for specific applications from liquid biopsy to homologous recombination deficiency, and pharmacogenomics to RNA sequencing for fusion detection.  

Multiple in-house algorithms are deployed in SOPHiA DDM™ to universally detect challenging variants with high accuracy regardless of sample type, DNA extraction technique, library preparation technology, or sequencing platform. Don’t miss this opportunity to uncover the secrets of our proprietary methodologies for detecting challenging variants. Tune in now! 

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At SOPHiA GENETICS, we collaborate with genetic experts to develop specialized next-generation sequencing (NGS) applications that seamlessly integrate into any laboratory workflow. In this Webinar our partners share how the analytical technology and dedicated features in the SOPHiA DDM™️ Platform have enabled the accurate detection and streamlined assessment of variants associated with Rare Diseases and Pharmacogenomics.​
​
Discover how the SOPHiA DDM™️ Platform seamlessly integrated into routine NGS workflows for Pharmacogenetic analysis.​
​
This talk took place at on June 11th in Glasgow, UK at the European Society of Human Genetics (ESHG) Conference 2023.​​

Featured Presenter:​

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Robert C. Akkers

Molecular Biologist at Result Laboratorium, Dordrecht, Netherlands

After my PhD at the department for Molecular Biology in Nijmegen, I continued my career as an application specialist genomics (NGS). During this work I got really enthusiastic about the field of molecular diagnostics. After a nice postdoc position at the Department of Genetics in Wageningen I got the chance to pursue my true passion and became a molecular biologist at Result Laboratorium (Clinical Chemistry) and the Department for Pathology in Dordrecht. Besides my role in routine diagnostics I enjoy implementing new techniques and new panels for molecular diagnostics.

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The webinar aims to provide a comprehensive overview of the latest advancements in the clinical management of high-grade ovarian cancer, with a focus on incorporating information regarding homologous recombination deficiency (HRD) and BRCA statuses obtained through decentralized, in-house assays. Four experts in the field — one anatomic pathologist, two medical oncologists, and one biologist — will present selected clinical cases to illustrate the integration of in-house HRD and BRCA status assessment into routine clinical practice.

The speakers will discuss the challenges and benefits associated with the transition from a centralized testing system to a decentralized, in-house assessment, in terms of results reporting, management of indeterminate cases, and communication among involved healthcare professionals. 

This webinar will aim to foster interdisciplinary collaboration among oncologists, geneticists, pathologists, and molecular biologists, facilitating a holistic approach to the clinical management of the most deadly gynecological cancer in the promising era of personalized treatments for patients with high-grade ovarian cancer.

 

Speakers

  

Xavier Matias-Guiu, MD, PhD
Professor of Pathology
University of Barcelona

Xavier Matias-Guiu is a professor of pathology at the University of Barcelona and Lleida and holds the position of chairman of pathology at Hospital Universitari Arnau de Vilanova de Lleida and Hospital Universitari de Bellvitge. He earned his medical degree from the University of Barcelona in 1981, and his doctorate from the Autonomous University of Barcelona in 1987. Between 1983 and 1986, he trained in Pathology and later became a faculty member at Hospital de Sant Pau from 1988 to 2002. He completed a postdoctoral fellowship in research pathology at New England Medical Center-Tufts University.

Matias-Guiu’s research focuses on the pathology and molecular features of endometrial and ovarian carcinomas. He served as the president of the Spanish Society of Pathology (2019-2021) and has been involved with the European Society of Pathology as a Member of the Council (2015-19), chairman of the Education subcommittee (2021-23), and president-elect (2023- ). He served as the president of the International Society of Gynecologic Pathologists (ISGYP) (2021-2023) and is a member of the World Health Organization (WHO) panel for the Classification of Tumours of the Female Genital Tract (2014, 2020). He also contributed to international guidelines in endometrial cancer and the ESMO guidelines on predictive biomarker testing in OC in 2020.

 

 

Beatriz Pardo, MD
Medical Oncologist
Institut Català d’ Oncologia (ICO) L’ Hospitalet

Beatriz Pardo graduated from the University of Barcelona and trained as a medical oncologist at Hospital de Sant Pau de Barcelona in 2001.She has been working as a medical oncologist since 2001 at Institut Català d’ Oncologia (ICO) L’ Hospitalet in Barcelona, and she has more than 20 years of clinical experience in gynecological cancers. She is working in a multidisciplinary group along with specialized oncologists, surgeons, pathologists, and radiologists in this area, continuously improving her knowledge.Pardo has been the principal investigator of several multicenter clinical trials trying to improve standard treatment for patients suffering from this disease and participating in the development of remarkable drugs such as PARP inhibitors or immunotherapy in gyn cancers. In parallel, she is a tutor of medical oncology residents in our Institution, collaborating in their training.

 

Marta Gil-Martin, MD
Clinical Director of the Phase I Unit
ICO l’Hospitalet

Marta Gil-Martin graduated from the University of Barcelona and trained as a medical oncologist at Institut Català of Oncology (ICO) in L’Hospitalet, Barcelona, Spain. Since then, she has been working in two amazing areas: gynecologic tumors and early drug trials. She has participated as a principal investigator in several trials in ovarian, endometrial, and cervical cancer, participating in the development of drugs such as PARP inhibitors and immunotherapy in endometrial cancer. Since 2022, she is also in the steering board of GEICO, the Spanish Ovarian Cancer Research Group. In parallel, she is the clinical director of the Phase I Unit in ICO l’Hospitalet since 2017.

Sergio Villatoro, PhD
Biologist, Department of Pathological Anatomy
Hospital Universitari de Bellvitge - IDIBELL

Sergio Villatoro is a molecular biologist with experience in the field of human genetics. His activity as a scientist has been characterized by analyzing human genomic variants either polymorphic or pathological. He has been involved in different projects to uncover variants related to neurodevelopmental disorders and in the study of polymorphic structural variants in human populations and their functional and evolutionary consequences.

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Going beyond HRR mutations: A deep-learning approach on HRD detection in ovarian cancer

 Homologous recombination deficiency (HRD) is an important prognostic and predictive biomarker in ovarian cancer. It is assessed by combining information from homologous recombination repair (HRR) gene mutations, the “cause” of HRD, with a measure of genomic scarring, the “effect” of HRD. However, implementing HRD analysis in-house can be challenging due to technical limitations, such as the requirement for deep genomic profiling data. Deep learning-based approaches that leverage low-pass whole genome sequencing (WGS) can help overcome limitations and maximize insights from raw NGS data for accurate in-house HRD detection.

In this webinar, Dr. Nicola Normanno (Director, Translational Research, National Cancer Institute, Italy Pascale Foundation) presents analytical performance results from an in-house evaluation of HRD status in ovarian cancer samples using the deep learning-based SOPHiA DDM™ HRD Solution.

SOPHiA DDM™ HRD Solution is for research use only, not for use in diagnostic procedures.

 

 

 

 

 

 

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SOPHiA GENETICS is collaborating with Memorial Sloan Kettering Cancer Center (MSK) to decentralize their advanced precision oncology tools – MSK-ACCESS® for liquid biopsy and MSK-IMPACT® for comprehensive genomic profiling (CGP). By combining the clinical expertise of MSK in cancer genomics, the predictive algorithms of SOPHiA DDMTM, and the power of the global SOPHiA GENETICS network, experts hope to expand access to precision cancer analysis capabilities worldwide.

Presented by: 

 Michael F. Berger, PhD, Co-Director, Marie-Josée & Henry R. Kravis Center for Molecular Oncology, Elizabeth and Felix Rohatyn Chair for Junior Faculty

Chloe Ryder, Product Manager at SOPHiA GENETICS

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