SeqOne is a bioinformatics platform for NGS data analysis in precision oncology, designed to detect, prioritise and interpret somatic variants and generate actionable clinical reports from raw sequencing data. It helps laboratories and healthcare professionals accelerate the interpretation of NGS data through an end-to-end workflow.
Detailed description
Operating principle
SeqOne Genomics is a genomic data analysis and interpretation platform that covers the entire workflow, from raw NGS data to the generation of clinically actionable information. It integrates advanced bioinformatics algorithms and machine-learning models to detect, prioritise and classify somatic genetic variants. It also includes filtering tools, annotation using premium clinical databases and the automated generation of interpretative reports.
The platform provides an end-to-end solution that includes data transfer, quality control, alignment, variant calling, variant classification, complete report generation and LIMS integration.
Clinical applications
The software is intended for somatic analysis in oncology, including solid tumours, haematological malignancies and liquid biopsy. In oncology, it provides variant interpretation, treatment recommendations and information about geolocated clinical trials.
The oncology application suite includes the following modules:
SOMAVAR: an application for the advanced bioinformatics analysis of somatic DNA panels. It enables sensitive detection of somatic variants and fusions in targeted gene panels—whether capture- or amplicon-based—with SNV and indel detection at a sensitivity of up to 1% VAF, as well as filtering, prioritisation and classification tools.
SOMAHEMATO: an application specifically designed to detect and interpret key haematological markers, including FLT3-ITD, KMT2A-PTD, IARC annotation of TP53 and fusions. It includes a dedicated module for the reliable determination of IGHV mutational status in chronic lymphocytic leukaemia (CLL).
SOMALBX: a specialised liquid-biopsy (ctDNA) solution designed to maximise the detection of somatic variants in tumour samples without requiring a matched normal sample—a tumour-only workflow. It enables the identification of SNVs, indels, CNVs and fusions or translocations with high sensitivity, down to a VAF of 0.1%. It is intended for early cancer detection, treatment-response monitoring and recurrence surveillance.
SOMARNA: a solution for identifying and visualising fusions from RNA-seq data.
SOMACNV CAPTURE: designed to detect somatic CNVs (≥300 bp) from capture-panel NGS data. This analysis is always performed after a preliminary analysis in another mode, such as SOMAVAR or SOMAHEMATO.
Deepmode function: enables dynamic control of the VAF threshold in SOMAVAR and SOMAHEMATO, with manual adjustment between 0.01% and 1%.
SOMAHRD: a solution for determining HRD status in solid tumours, validated using data from the PAOLA-1 trial. It combines a gene panel (BRCA1/2) with low-coverage whole-genome sequencing (sWGS) to measure genomic instability (LGA and LPC) and detect amplifications in CCNE1 and RAD51B.
Benefits
The platform provides a flexible solution for molecular laboratories that need to interpret complex NGS data within clinically relevant time frames. It delivers robust interpretations through regularly updated databases and automated classification.
It offers the flexibility to adapt panels and workflows to changing clinical requirements, as the tool is compatible with numerous sequencers—including Illumina, MGI and Oxford Nanopore—and reagent kits.
Technology
SeqOne Genomics is cloud-based software that uses artificial intelligence and machine learning to prioritise variants. It integrates annotation databases such as OMIM, COSMIC, CIViC, MolecularMatch and others, together with international guidelines for biological and clinical interpretation, including ACMG, AMP/ASCO and ComPerMed. The platform incorporates regular updates to biological, clinical and therapeutic databases.
Intended users
The product is intended for molecular laboratories performing NGS analyses, as well as biologists, pathologists, clinicians and oncologists. It is also intended for biotechnology organisations and other entities interested in advanced genomic analysis.
Security, compliance and support
The SeqOne platform is certified as a Class C CE-IVD in vitro diagnostic medical device under the IVDR. The company is ISO 13485 certified as a medical-device manufacturer and holds ISO 27001, HDS and GDPR certifications for information security and healthcare-data hosting, ensuring secure information management and data protection.
