VarSome

• Booth: 1719

The Variant Interpretation Company

Over 500 000 users around the world rely on VarSome's robust database of 140 aggregated human genome variant data sources, and best-in-class pathogenicity classifiers, to power their variant interpretation. With our industry-leading support team, flexible pricing, and on-premises installations, we work around you so you can spend more of your time finding answers in your NGS data.

Visit us at VarSome.com and see for yourself.

Brands: VarSome

 Press Releases

• King Faisal Specialist Hospital & Research Centre to Power Genomic Interpretation with VarSome (Oct 20, 2022)

  RIYADH, Kingdom of Saudi Arabia--King Faisal Specialist Hospital and Research Centre (KFSH&RC) will integrate Saphetor’s proprietary human genome variant interpretation engine, VarSome, into its research and clinical genomics programs. The integration aligns with Saudi Arabia’s Vision 2030 to strengthen the Kingdom’s healthcare sector and its services with technological advancements.

  KFSH&RC is a leading tertiary and quaternary healthcare provider in the Middle East. A globally recognized and accredited hospital, KFSH&RC provides high-quality clinical services, including leading-edge treatments in oncology, transplantation, cardiovascular diseases, neurosciences, and genetics.

  Saphetor’s VarSome, integrates and harmonizes 140 genetic data sources, over 32 million publications, and numerous unique annotations from a community of over 500,000 users, making it the most comprehensive database of human genome variants. VarSome also includes automated variant classification tools that apply globally recognized standards developed by the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology, for interpreting germline, somatic, and structural variants. This addresses a crucial bottleneck in analyzing next-generation sequencing data - the need to manually and individually query numerous data sources and in silico prediction tools. By implementing VarSome, KFSH&RC’s clinicians and researchers will be able to analyze their data with greater speed and power to reduce the time taken to provide a diagnosis and find answers for their patients.

  VarSome will be deployed as an API using an on-premises installation. The integration will ensure that data will not leave Saudi Arabia, in accordance with the Kingdom’s data governance and protection laws. Saphetor developed VarSome to aggregate data in line with data privacy requirements worldwide and to overcome the difficulties of moving large volumes of data associated with whole genome sequencing.

  Dr Fowzan Alkuraya, Chair at King Faisal Specialist Hospital and Research Centre said, “We are committed to providing the best care possible to our patients. And we are invested in establishing King Faisal Specialist Hospital and Research Centre as one of the world’s leading healthcare providers. Working with Saphetor allows us to implement a powerful tool that greatly supports our genomic medicine programs without compromising data privacy and security regulations.”

  Dr Ahmed Alfares, Medical Consultant and Senior Clinical Scientist at King Faisal Specialist Hospital and Research Centre said, “VarSome is a crucial asset for clinical geneticists worldwide. Being able to deploy the VarSome API locally allows us to integrate this powerful tool directly into our workflows to power our variant interpretation workflows. Furthermore, it will greatly improve our ability to provide timely diagnoses to our patients and solve our toughest cases.”

  Andreas Massouras, Founder and CEO of Saphteror said, “We are very proud to partner with King Faisal Specialist Hospital and Research Centre and support their ambition to become a world leader in genomic medicine. We share a joint mission to provide the benefit of genomics to whomever needs it.”

  About King Faisal Specialist Hospital & Research Centre
  King Faisal Specialist Hospital & Research Centre (KFSH&RC) is a leading tertiary & quaternary healthcare provider in the Middle East. KFSH&RC's mission is to provide the highest level of specialized healthcare in an integrated educational and research setting.

  KFSH&RC has a rich history of providing high-quality clinical services, including leading-edge treatments in oncology, transplantation, cardiovascular diseases, neurosciences, and genetics.

  A globally recognized healthcare provider, KFSH&RC ranked 1st in Pediatric Liver and Kidney Transplants (<18 years old) compared with centers in the UK and the USA while maintaining graft survival rates comparable to the US organ transplant centers. In 2022, KFSH&RC was ranked among the top healthcare providers across the globe by Newsweek.

  Guided by the goals of Saudi Arabia’s Vision 2030, KFSH&RC is undertaking a Transformation towards a financially sustainable, independent, not-for-profit foundation. KFSH&RC has been internationally recognized for its continuous achievements in patient experiences and outcomes by accreditations from the HIMSS Davies Award of Excellence, CHiME Most Wired, JCI, CAP, ISO 22301 & 27001, to list a few.

  About Saphetor SA

  Saphetor SA, is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge.

  Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. VarSome.com professional community and search engine is freely accessible, featuring a widely-recognized community-driven knowledge base that enables flexible queries across more than 140 genetic and genomic data resources.

  VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data-mining and analysis tools. VarSome Clinical is a CE-IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions.

  Contacts

  Carl Smith
  Marketing Manager
  Saphetor
  E: carl.smith@saphetor.com
  T: +44 (0) 7515 820918

• Saphetor Partners with PTC Therapeutics to advance awareness of clinical programs in rare diseases (Oct 20, 2022)

  Lausanne, Switzerland, July 12, 2022 - Saphetor, a global precision medicine company and the creator of VarSome, The Human Genomics Community and variant interpretation platform, announced today a partnership with PTC Therapeutics International Limited. The open genomics community, VarSome.com, brings together a vast global network of clinical and research genetic laboratories leveraging its industry-leading genomic annotation tools and data. The collaboration will be centered around supporting awareness of clinical programs in rare diseases.

  With this partnership, Saphetor will facilitate connecting the rare disease community to accelerate research collaboration, by identifying the most relevant stakeholders and facilitating the communication between involved parties such as labs, pharma and healthcare professionals. This collaboration will help improve the speed at which the rare disease community can be made aware of rare diseases and associated clinical programs, relevant to their genes / variants of interest thanks to VarSome’s global coverage of users.

  Ludovic Baillon, Genetic and Diagnostic Lead, at PTC Therapeutics said: “We look forward to leveraging Saphetor’s innovative approach to bring together the global genomics community to build awareness in our rare disease programs”.

  Andy Cosgrove, CCO of Saphetor commented: “We are very excited to partner with PTC Therapeutics and contribute to their important effort in developing treatments in rare diseases. VarSome.com is proving an extremely valuable resource for willing clinical and research labs as well as pharmaceutical companies to collaborate on a worldwide level”.

   

  About PTC

  PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to innovate to identify new therapies and to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines. PTC's mission is to provide access to best-in-class treatments for patients who have little to no treatment options. PTC's strategy is to leverage its strong scientific and clinical expertise and global commercial infrastructure to bring therapies to patients. PTC believes this allows it to maximize value for all its stakeholders. To learn more about PTC, please visit us at www.ptcbio.com and follow us on Instagram, Facebook, Twitter, and LinkedIn.

   

  About Saphetor SA

  Saphetor SA, is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge.

  Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. VarSome.com professional community and search engine is freely accessible, featuring a widely-recognized community-driven knowledge base that enables flexible queries across more than 130 genetic and genomic data resources.

  VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data-mining and analysis tools. VarSome Clinical is a CE-IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions.

   

  For more information contact:

  Carl Smith,

  Marketing Manager

  Saphetor

  E: carl.smith@saphetor.com 

• G42 Healthcare strengthens clinical genomics offering with Saphetor’s VarSome bioinformatics platform, strengthens UAE’s position as a global leader in healthcare innovation (Oct 24, 2022)
  • New solution to empower accurate interpretation of Next-Generation Sequencing data
  • Expanded offerings to make personalized treatment options a reality in UAE and region

  Abu Dhabi, October 24, 2022: In a step aimed at boosting its clinical genomics capabilities in the region and beyond, G42 Healthcare, Abu Dhabi-based leading AI health-tech company, has announced a partnership with Saphetor SA, a Swiss precision medicine company and creator of the VarSome suite of bioinformatics solutions.

  The collaboration is a pivotal step in G42 Healthcare’s strategy to support the health of future generations, in addition to reinforcing the UAE’s reputation as the hub for global innovation and research in the field of clinical genomics. 

  Saphetor’s VarSome Clinical – a clinically-certified cloud-based platform empowering fast and accurate variant discovery, annotation, and interpretation of Next Generation Sequencing data – complements G42 Healthcare’s robust capabilities of sequencing data more rapidly and precisely, helping biologists, geneticists, and doctors to push the boundaries of healthcare innovation and discovery.

  Enhancing these new capabilities is part of G42 Healthcare’s mission to provide insights and facilitate early diagnosis and treatment of cancer, rare and metabolic diseases, and other genetic conditions in the region. The company recently launched over 250 comprehensive clinical genetic testing panels that use state-of-the-art sequencing technologies, with the shortest turnaround time. This collaboration also enables clinical genomics, at scale, as a service, using G42 Healthcare’s 3 genomic sequencing platforms offering both long and short read capabilities.

  VarSome Clinical’s accurate variant calling and world-leading annotation and variant classification capabilities, coupled with Saphetor’s sophisticated implementation capabilities, make it a perfect fit for G42 Healthcare to cater to the strong data regulations in place in the region for genomic data.

  Commenting on the partnership, Ashish Koshy said: “G42 Healthcare is committed to pushing the boundaries of innovation to enable us to continually offer innovative solutions across the entire healthcare value chain. The collaboration will fortify G42 Healthcare’s clinical genomics’ solutions by leveraging the VarSome suite of bioinformatics tools to deliver valuable data insights and improved outcomes. This partnership is a pivotal step in our efforts to reinforce UAE’s reputation as the regional hub of innovation in healthcare and life sciences.”

  Andreas Massouras, CEO and Founder of Saphetor SA, said: “Since its inception, Saphetor is committed to enabling accurate molecular diagnosis at scale for a wide range of disorders through identification and interpretation of human genomic  variants by leveraging proprietary algorithms and expert domain knowledge. VarSome is an extremely valuable resource to support clinical decisions as well as for clinical genomics research in delivering comprehensive genome data, biological insights, and healthcare outcomes for better personalized and preventive healthcare delivery. At Saphetor, we are all excited for our technology to serve the people of the UAE and beyond via our partnership with G42 Healthcare”.

  VarSome Clinical is powered by a comprehensive molecular database of 140 curated and aggregated genomic data sources and is additionally supported by a vast library of linked publications and comments from a global community of over 500,000 users of VarSome.com. The platform applies recognized global interpretation standards to germline and somatic variants to produce pathogenicity classifications in real-time.

  G42 Healthcare has built the region’s largest Omics Centre of Excellence which leverages advanced sequencing technologies for short and long reads, making it a partner of choice for governments, research institutes, hospitals, and omics centers. This capability helps G42 Healthcare offer state-of-the-art clinical genetic sequencing services across the disease spectrum – from acute to chronic to lifestyle.

  -End-

  About G42 Healthcare

  G42 Healthcare, a leading health-tech company, is on a mission to develop a world-class healthcare sector in the UAE and beyond, by harnessing data and advanced medical technologies to unlock the potential of personalized and preventive care and transforming the traditional healthcare ecosystem. We have built Biogenix Labs, UAE’s first COVID-19 accredited large-scale throughput laboratory, facilitated the 4Humanity clinical trials, the world’s first phase three trial for inactivated vaccine against COVID-19 with over 43,000 volunteers from 125+ nationalities across the pan-Arab region, established the region’s first dedicated contract research organization (IROS) for conducting clinical research with and for local populations, supported UAE’s healthcare authorities on the national vaccination implementation, conducted research into new vaccines and drug therapies, and built Omics Centre of Excellence, the region’s largest and most technologically advanced Omics facility that is the backbone for the Emirati Genome Program, the world’s most comprehensive population genomics initiative.

  For further information on G42 Healthcare, visit https://www.g42healthcare.ai

  About Saphetor SA

  Saphetor SA, is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge.

  Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. VarSome.com professional community and search engine is freely accessible, featuring a widely-recognized community-driven knowledge base that enables flexible queries across more than 140 genetic and genomic data resources.

  VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data-mining and analysis tools. VarSome Clinical is a CE-IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions. VarSome can also be integrated into existing in-house pipelines via VarSome API through cloud-based or on premises installations.
  
  For more information contact:

  Carl Smith

  Marketing Manager

  Saphetor

  E: carl.smith@saphetor.com

  T: +44 (0) 7515 820918