Saphetor provides the VarSome Suite, a set of bioinformatics solutions that processes Next Generation Sequencing (NGS) data to generate clinically relevant genetic variation information. This technology enables healthcare professionals and researchers to access a comprehensive knowledge base and automated classification tools, enhancing the accuracy and efficiency of genomic analysis.
Funding
$4.2M raised to dateRaised to date based on public sources. This may differ from the amount the company actually raised and is based only on what is publicly available on the internet.
Founders
Product
Problem
Analyzing Next Generation Sequencing (NGS) data to identify clinically relevant genetic variations is complex and requires specialized bioinformatics tools and extensive knowledge bases. The process of variant interpretation and classification can be time-consuming and prone to errors if performed manually or with inadequate resources.
Solution
The VarSome Suite offers a comprehensive set of bioinformatics solutions designed to streamline the processing, annotation, and interpretation of NGS data. It combines a variant search engine, a curated knowledge base aggregating data from over 140 sources, and automated variant classification tools. The platform is available in several editions, including a community version, a premium subscription with additional data resources, and a CE-IVD certified clinical version for diagnostic use. VarSome enables researchers and healthcare professionals to efficiently extract meaningful insights from genomic data, facilitating accurate and timely clinical decision-making.
Target Audience
The primary users are healthcare professionals, clinical researchers, and diagnostic laboratories involved in genomic data analysis and variant interpretation.
Features
- Integrated variant search engine for querying genomic variations across multiple databases
- Aggregated knowledge base with cross-referenced data from over 140 public resources
- Automated germline and somatic variant classification based on standard guidelines
- VarSome Clinical: CE-IVD certified platform for clinical NGS data analysis
- Support for whole genomes, exomes, and gene panels, suitable for individual samples, trios, families, and cohorts
- RESTful API for programmatic access and integration with custom bioinformatics pipelines
- Community platform for sharing expertise and establishing collaborations