Next Generation Sequencing (NGS)

Targeted-enrichment NGS pan-cancer panel for comprehensive genomic profiling (CGP) of solid tumours. Designed to detect somatic variants at DNA level (SNVs, indels, CNVs, translocations) and RNA level (gene fusions), as well as to assess complex immuno-oncology biomarkers such as tumour mutational burden (TMB), microsatellite instability (MSI) and homologous recombination deficiency (HRD). Detailed Description Operating principle…

HRD analysis solution combining low-coverage whole-genome sequencing (shallow/low-pass WGS) and a targeted gene panel to detect genomic instability, BRCA1/2 alterations and other genes related to homologous recombination. It is designed for laboratories wishing to implement HRD testing in-house with an automated, efficient and clinically validated workflow. Detailed Description SeqOne’s HRD solution combines shallow WGS and…

Comprehensive targeted liquid biopsy assay designed to support decision-making in oncology through the analysis of 74 clinically relevant genes. The solution encompasses everything from library preparation reagents to bioinformatics analysis, clinical interpretation and the generation of detailed reports. 3.- Detailed Description Operating principle OncoSELECT® is an advanced liquid biopsy panel based on circulating cell-free DNA…

High-performance exome for the enrichment of human coding regions, with updated coverage of RefSeq, CCDS and GENCODE, including the TERT promoter and difficult-to-capture exons. 3.- Detailed Description Operating principle SureSelect Human All Exon V8 is based on NGS library preparation and capture enrichment of target regions of the human exome. The workflow is compatible with…

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™…

Advanced cloud-based bioinformatics platform designed for the automated analysis, interpretation, and classification of somatic variants in oncology. Through an integrated environment, the system evaluates clinical evidence in real time, automates classification in accordance with AMP/ASCO/CAP guidelines, and provides access to currently active clinical trials. Detailed description Operating principle End-to-end cloud-based solution for the clinical interpretation…

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…

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…

PGT‑SR (Preimplantation Genetic Testing for Structural Chromosomal Rearrangements) is a solution aimed at the analysis of structural chromosomal rearrangements in embryos. According to the product literature, it is based on single‑cell whole‑genome amplification and NGS sequencing to detect embryos from patients with chromosomal abnormalities and select euploid embryos for transfer, with the aim of reducing…

MaReCs® (Allelic Mapping with Resolved Carrier Status) is a PGT‑SR technology that first identifies aneuploid or euploid embryos and then analyses translocation breakpoints and SNP linkage to differentiate carrier from non‑carrier euploid embryos. Detailed Description Principle of operation MaReCs® combines ChromSwift® technology with NGS sequencing to perform a CNV analysis and subsequently an SNP linkage…

KaryoSeq™ is a next‑generation sequencing (NGS)‑based solution for preimplantation genetic testing that enables PGT‑M, PGT‑SR and PGT‑A within a single workflow. It is designed for the analysis of DNA extracted from 3 to 10 trophectoderm cells of human embryos at the blastocyst stage. Detailed Description Principle of operation KaryoSeq™ is based on the MARSALA principle…

This is a comprehensive solution for human whole‑genome sequencing that provides a thorough and high‑resolution view, optimising variant detection and genetic research. Its workflow enables the generation of high‑precision libraries with uniform coverage. Detailed description Key features Illumina DNA PCR-Free Prep, Tagmentation is designed to offer a fast, flexible, and high‑throughput workflow for whole‑genome sequencing…

In‑house targeted enrichment NGS panel for RNA profiling from tissue samples (FFPE). It analyzes 43 genes using a splice‑aware probe design anchored to exon boundaries. Detects fusions in a partner-agnostic manner, complex splicing variants, and gene expression profiles in a single workflow. Detailed Description Principle of operation End‑to‑end solution based on hybrid capture enrichment chemistry…

In‑house targeted enrichment NGS panel exclusively for liquid biopsy (cfDNA). It analyzes 43 genes with ESCAT I and II clinical evidence. Includes library preparation through an optimized workflow (DNA‑only) for plasma samples. Detects SNVs, Indels, CNVs, fusions and 36 microsatellite instability (MSI) markers. Detailed Description Principle of operation End‑to‑end solution based on hybridisation and capture…

In‑house targeted enrichment NGS panel for pan‑cancer solid tumor profiling. It analyzes 115 genes (79 with complete CDS) with ESCAT I, II and III clinical evidence. Includes library preparation through a flexible workflow that allows processing FFPE and cfDNA samples together or separately. Detects SNVs, Indels, CNVs, fusions, structural variants and MSI. Detailed Description PRINCIPLE…

NGS solution for library preparation aimed at the simultaneous identification and profiling of microbial species present in DNA extracted from original samples, through the analysis of the variable regions V1-V4 of the 16S rRNA gene. Product for research use only (RUO) and not intended for diagnostic procedures. Detailed Description Principle of operation VIASURE 16S V1-V4…

Next‑generation sequencing (NGS) assay with hybrid capture enrichment for the detection and whole‑genome sequencing of approximately 200 RNA and DNA viruses relevant to public health. It integrates library preparation, enrichment, sequencing, and data analysis into an optimized workflow of about two days. Detailed Description Principle of operation The panel can start from RNA, DNA, or…

Targeted library preparation workflow for whole‑genome sequencing of influenza A and influenza B from total RNA on Illumina systems. Enables preparation of up to 48 libraries with unique dual indexes and generates sequencing‑ready libraries in less than 9 hours. Detailed Description Principle of operation The IMAP-Flu workflow uses a pool of 16 primers (Influenza A/B…

Amplicon-based NGS library preparation solution aimed at public health surveillance and microbiological research. Accepts DNA or RNA, as well as user-designed or commercial primers, with compatibility with multiple sample types and with almost all Illumina sequencing systems. Detailed Description Principle of operation Amplicon-based library preparation kit built on the same chemistry as COVIDSeq. The workflow…

Directed amplification and sequencing assay to recover and characterize the complete genome of respiratory syncytial virus (RSV) A and B from RNA extracted from positive respiratory samples, using reagents from the Illumina COVIDSeq assay. The provided documentation positions it as a solution oriented to viral surveillance, rapid genomic characterization, and analysis of respiratory samples with…

Next-generation sequencing (NGS) amplicon-based assay for the detection and characterization of SARS-CoV-2. It integrates library preparation, sequencing, and data analysis into a workflow aimed at genomic surveillance and is for research use only. 3.- Detailed Description Principle of operation Illumina COVIDSeq is integrated into a complete workflow for the detection and characterization of SARS-CoV-2, from…

Kit for the qualitative evaluation of the human mycobiota by PCR amplification of the ITS1 region of fungal ribosomal DNA (rDNA) and NGS sequencing. Detailed Description Operating Principle Mycobiota Solution is based on the PCR amplification of the hypervariable ITS1 region of the fungal rDNA, using primers that allow the identification of most fungal populations…

In vitro diagnostic kit based on PCR and Next-Generation Sequencing (NGS) for the qualitative evaluation of the microbiome through the analysis of hypervariable regions of the bacterial 16S rDNA gene. It is designed for human gut microbiota and other biological samples, and can be used as a diagnostic aid in the clinical context of fecal…