Lausanne, Switzerland & Murcia, Spain, 30 July 2025 —
LongSeq has been working with Oxford Nanopore Technologies for years, applying long read sequencing to genetically complex clinical cases. This has resulted in HEREDITARY-CANCER-Seq, a comprehensive long-read sequencing test enabling superior resolution to detect complex structural variants, tandem repeats, mobile element insertions, and epigenetic modifications.
Recognizing the need for advanced variant interpretation to support HEREDITARY-CANCER-Seq, LongSeq selected VarSome Clinical as their solution for tertiary analysis. The platform will be integrated into the internal workflows of LongSeq and made available to their customers.
VarSome Clinical provides industry leading annotation and automated classification, combined with advanced tools to enable incisive analyses of NGS data for both short and long-read sequencing data across germline and somatic samples. This collaboration combines comprehensive long-read sequencing coverage with deep annotation and analysis tools, enabling faster and more robust diagnostic decision-making.
This collaboration represents a significant advancement for the genomics sector in Spain, enabling laboratories, hospitals, and research centers to access a solution that enhances the detection of complex genetic variants, particularly those that are difficult to interpret, such as structural and epigenetic variants. This translates into more accurate diagnoses, faster turnaround times, and ultimately better clinical decisions.
Belén de La Morena, CEO LongSeq commented:
"At LongSeq, our mission is to provide an integral long-read sequencing service that empowers researchers and clinicians to uncover key genetic insights that enable better diagnoses and more impactful research. However, the challenge of analyzing vast amounts of variants from sequencing data remains significant. By partnering with Saphetor, we are equipping our customers with an intuitive and powerful tool for variant filtering and prioritization including structural variants which are more challenging, helping them extract meaningful insights more quickly and with greater confidence, particularly when interpreting challenging structural variants.”
Maarten Kempen, CCO of Saphetor commented:
“The potential of long-read sequencing is enormous, and we are excited to see it gaining traction in Spain thanks to LongSeq. We are proud to share their commitment for innovation, quality, and improved patient outcomes. Through VarSome Clinical, we become part of their end-to-end workflow by providing evidence-based interpretation, especially for structural variants. We truly believe this collaboration can be an important step towards the broader adoption of long-read sequencing technologies across Spain, and eventually to the rest of Europe, bringing the industry closer to establishing long-read sequencing and analysis in clinical diagnostics.”
About LongSeq
LongSeq Applications is a Spanish biotechnology company specializing in long-read DNA and RNA sequencing using Oxford Nanopore Technologies. With five years of experience and a strong academic foundation as a spin-off from the University of Murcia, LongSeq provides advanced genomic solutions to address complex genetic cases. Their offering includes HEREDITARY-CANCER-Seq, an advanced test for hereditary cancer that enables comprehensive variant detection, including structural and epigenetic variants, with no need for amplification. Organizations interested in learning more about this collaboration can visit www.longseq.com or contact us for more information at info@longseq.com.
About Saphetor SA
Saphetor 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 a large number of 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 IVDR-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 about Saphetor SA and VarSome Clinical, please visit www.saphetor.com or contact sales@varsome.com.
Contact
Carl Smith
Director of Marketing and Communications
Saphetor