SOPHIA Genetics

Twist custom panels are highly customisable solutions, allowing the exact selection of regions, genes, pathways or variants of interest. They are designed to offer high performance, flexibility and precision in all types of applications and starting samples. Detailed Description Operating principle: In practice, the use of custom panels makes it possible to overcome the limitations…

Pharmacogenomics solution for NGS analysis that combines a capture enrichment kit with the analytical capabilities of the SOPHiA DDM™ platform. It is designed to evaluate and report genomic variants associated with pharmacogenomics in an accelerated manner. Detailed description Operating principle The solution integrates a capture enrichment kit with the bioinformatics analysis of the SOPHiA DDM™…

In-house liquid biopsy solution based on hybrid-capture next-generation sequencing (NGS) technology for the ultrasensitive detection of somatic alterations in circulating cell-free DNA from plasma. Developed in collaboration with Memorial Sloan Kettering Cancer Center (MSK), it implements a robust matched tumor-normal sequencing approach (plasma cfDNA + white blood cell DNA) to filter germline variants and mutations…

Decentralised, in-house comprehensive genomic profiling (CGP) solution for solid tumours, based on hybrid capture next-generation sequencing (NGS). Developed in collaboration with Memorial Sloan Kettering Cancer Center (MSK), it features a robust matched tumour-normal sequencing approach for filtering germline variants and clonal haematopoiesis. Detailed description Operating principle The decentralised MSK-IMPACT® powered with SOPHiA DDM™ solution enables…

Portfolio of hybrid capture-based NGS solutions for the analysis of genes involved in homologous recombination repair (HRR) and the study of alterations associated with the homologous recombination pathway in different types of cancer. The range includes three scalable panels designed to meet different analytical needs: mini HRS, HRS and Extended HRS (ExtHRS). Detailed description Operating…

Homologous Recombination Deficiency (HRD) Solution NGS- and low-pass whole-genome sequencing (low-pass WGS)-based solution for determining homologous recombination deficiency (HRD) status in ovarian cancer. Operating Principle This comprehensive solution, available as CE-IVD and for Research Use Only (RUO), is designed to support the determination of tumour HRD status in patients with ovarian cancer. It integrates two…

A portfolio of pre-designed and optimised NGS solutions based on hybrid-capture technology for comprehensive analysis of biomarkers associated with solid tumours from DNA and RNA. Designed by genomic experts to simplify in-house implementation and accelerate cancer research, these applications integrate natively with the analytical and interpretative capabilities of the cloud-based SOPHiA DDM™ platform. They provide…

Principle of operation The SOPHiA DDM™ Community Liquid Biopsy Solution 21 genes has been developed and tested by genomic experts. The solution combines a capture-based targeted enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform, which detects, annotates and pre-classifies genomic alterations in the genes included in the panel. The workflow starts…

Principle of Operation SOPHiA DDM™ for Liquid Biopsy comprises a set of solutions directly adapted from existing commercial applications for formalin-fixed paraffin-embedded (FFPE) tissue, enabling the analysis of circulating cell-free DNA (cfDNA) in plasma. The incorporation of unique molecular identifiers (UMIs) through CUMIN™ enables the generation of ultra-deep duplex consensus sequences. This process effectively suppresses…

Analytical platform for clinical genomics that enables the detection, annotation, and interpretation of genomic variants using artificial intelligence to support patient diagnosis and treatment. Detailed Description SOPHiA DDM™ Platform is an advanced solution for precision medicine workflows, with a renewed interface, web access, and new functionalities to accelerate genomic data analysis. It offers end‑to‑end workflows…

A comprehensive solution combining a capture-based enrichment kit and the SOPHiA DDM™ platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow. Detailed Description Operating Principle A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA…

Solutions for the analysis of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the SOPHiA DDM™ software. Detailed Description SOPHiA GENETICS™️ solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow is supported by…

NGS panel for the study of 23 key genes associated with Chronic Lymphocytic Leukemia (CLL), including the biomarkers outlined in international guidelines (TP53 and somatic hypermutation).

Study of genes associated with heart diseases.

Study of 54 genes associated with different types of lymphomas.

Study of the 44 most clinically relevant genes related to nephropathies.

Study of 4 genes associated with breast and ovarian cancer.

Analysis of 42 genes involved in the in the most common solid tumors: lung, colorectal, skin, and brain cancers

Study of the coding regions of more than 19,000 genes by NGS.

Identification of mutations associated to Myelodysplasic Syndroms, Myeloproliferative Neoplasms and Leukemia.