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King Faisal Specialist Hospital & Research Centre to Power Genomic Interpretation with VarSome



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 & 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.



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