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SOPHiA GENETICS™ thrilled to be back at this year’s Healthcare Information and Management Systems Society annual meeting. Stop by booth #3460 to meet our team and to learn how our cloud-based SOPHiA DDM™ Platform is empowering clinical researchers to break data silos and improve knowledge sharing. You can also chat with our experts and dem our SOPHiA DDM™ Platform GEN 2. Stay tuned for more information on our Lunch & Learn presentation.
Join us at ESMO 2025! Find out how we advance data-driven medicine, with our cloud-based SOPHiA DDM™ Platform. Discover how it empowers health data interpretation with advanced analytics modules, simplified reporting, and a global community of healthcare institutions.
We are excited to be back at ECP in 2025! Join us and explore more about our recent developments in Liquid Biopsy, CGP, Solid Tumors and more!
#PrecisionMedicine #RealWorldData #Genomics #DataDrivenMedicine #Oncology
SOPHiA GENETICS™ is thrilled to return for Festival of Genomics! Visit us at booth #91 to learn more about the New Generation SOPHiA DDM™ Platform and Alamut™ Visual Plus.
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.
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.
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!
[et_pb_section fb_built="1" theme_builder_area="post_content" _builder_version="4.24.2" _module_preset="default"][et_pb_row _builder_version="4.24.2" _module_preset="default" theme_builder_area="post_content"][et_pb_column _builder_version="4.24.2" _module_preset="default" type="4_4" theme_builder_area="post_content"][et_pb_text _builder_version="4.24.2" _module_preset="default" theme_builder_area="post_content" hover_enabled="0" sticky_enabled="0"]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:
[/et_pb_text][/et_pb_column][/et_pb_row][et_pb_row _builder_version="4.24.2" _module_preset="default" theme_builder_area="post_content" column_structure="1_3,2_3"][et_pb_column _builder_version="4.24.2" _module_preset="default" type="1_3" theme_builder_area="post_content"][et_pb_image src="https://www.sophiagenetics.com/wp-content/uploads/2024/03/Picture-1.jpg" _builder_version="4.24.2" _module_preset="default" theme_builder_area="post_content" title_text="Picture 1" hover_enabled="0" sticky_enabled="0"][/et_pb_image][/et_pb_column][et_pb_column _builder_version="4.24.2" _module_preset="default" type="2_3" theme_builder_area="post_content"][et_pb_text _builder_version="4.24.2" _module_preset="default" theme_builder_area="post_content" hover_enabled="0" sticky_enabled="0"]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.
[/et_pb_text][/et_pb_column][/et_pb_row][/et_pb_section] [et_pb_section fb_built="1" _builder_version="4.16" global_colors_info="{}" theme_builder_area="post_content"][et_pb_row _builder_version="4.16" background_size="initial" background_position="top_left" background_repeat="repeat" global_colors_info="{}" theme_builder_area="post_content"][et_pb_column type="4_4" _builder_version="4.16" custom_padding="|||" global_colors_info="{}" custom_padding__hover="|||" theme_builder_area="post_content"][et_pb_text _builder_version="4.23.1" background_size="initial" background_position="top_left" background_repeat="repeat" global_colors_info="{}" theme_builder_area="post_content"]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.
[/et_pb_text][/et_pb_column][/et_pb_row][/et_pb_section] [et_pb_section fb_built="1" _builder_version="4.16" global_colors_info="{}" theme_builder_area="post_content"][et_pb_row _builder_version="4.16" background_size="initial" background_position="top_left" background_repeat="repeat" global_colors_info="{}" theme_builder_area="post_content"][et_pb_column type="4_4" _builder_version="4.16" custom_padding="|||" global_colors_info="{}" custom_padding__hover="|||" theme_builder_area="post_content"][et_pb_text _builder_version="4.23.1" background_size="initial" background_position="top_left" background_repeat="repeat" global_colors_info="{}" theme_builder_area="post_content"]
Optimized variant prioritization for enhanced insights: SOPHiA DDM™️ and Alamut™️ Visual Plus in Action.
Are you keen to improve your tertiary analysis?
Discover how SOPHiA GENETICS end-to-end workflows can do just this.
Our webinar covers:
Presented by:
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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 support@sophiagenetics.com to obtain the appropriate product information for your country of residence.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.