Molecular Genetics

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…

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…

VarSome Clinical is a CE‑IVDR platform for clinical interpretation of NGS data that turns genomic data into actionable information. The software performs calling, annotation, classification and prioritisation of germline and somatic variants, linking them with curated evidence to support faster and more reliable diagnostic decisions. Detailed Description Principle of operation VarSome Clinical is a comprehensive…

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…

Genvinset® deltaF508 is a semi‑automated in vitro diagnostic kit for the qualitative detection of wild‑type and/or F508del alleles of the CFTR gene, associated with cystic fibrosis. The assay is performed on genomic DNA extracted from whole blood using real‑time PCR with TaqMan® probes. Detailed description Key features Genvinset® deltaF508 is designed for the molecular determination…

Emedgene™ software is designed to optimise variant interpretation in rare diseases and other germline applications. It combines explainable artificial intelligence, automation and configurable workflows to reduce the variant curation burden and accelerate tertiary analysis. Detailed description Key features It is a comprehensive solution developed to streamline genetic interpretation workflows and reduce the manual effort associated…

Devyser LynchFAP is a targeted NGS solution for the analysis of germline variants associated with hereditary colorectal cancer syndromes. The assay enables the detection of SNVs, indels, and CNVs in genes related to Lynch syndrome, familial adenomatous polyposis (FAP), and MUTYH-associated polyposis (MAP), also incorporating a specific LR-PCR for the correct localization of variants in…

Devyser HBOC NGS is a fast and robust NGS solution aimed at the detection of germline variants in 12 genes associated with an increased risk of hereditary breast and ovarian cancer: ATM, BARD1, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53. It offers comprehensive and uniform coverage of all coding exons and exon/intron…

Devyser BRCA NGS is a fast and robust NGS solution designed for the detection of genetic variants in the BRCA1 and BRCA2 genes. It offers comprehensive and uniform coverage of all coding exons and exon/intron junctions of both genes. In addition, it includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number…

Devyser BRCA PALB2 NGS is a fast and robust NGS solution designed for the detection of genetic variants in the BRCA1, BRCA2, and PALB2 genes. It offers comprehensive and uniform coverage of all coding exons and exon/intron junctions of both genes. In addition, it includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and…

NGS library preparation kit designed for demanding WGS applications, featuring adjustable enzymatic fragmentation, high yield, and more uniform coverage even from low-input or degraded DNA. The documentation highlights its utility in complex samples, including severely degraded FFPE, and its strong performance in AT- and GC-rich regions. Detailed Description Operating Principle This library preparation solution is…

Comprehensive system for NGS methylation analysis combining enzymatic conversion, target enrichment, and high-performance methylation panels to identify methylated regions with greater efficiency, less DNA damage, and optimized sequencing metrics. The solution is designed for epigenetics, oncology, and the discovery of differentially methylated regions. Detailed Description Operating Principle This is an end-to-end sample preparation and enrichment…

Target enrichment solution for long-read sequencing that combines preconfigured panels and customizable options to study complex genomic regions with high uniformity, balanced coverage, and precise analysis of SNPs, indels, and structural variants. Detailed Description Operating Principle The workflow integrates Twist's targeted enrichment technology with long-read sequencing to efficiently capture genomic regions of interest at scale.…

Spike-in panels designed to complement exome sequencing through evenly distributed genome-wide coverage, aimed at improving the detection of copy number variations (CNVs). Available in three probe densities—100 kb, 50 kb, and 25 kb—they seamlessly integrate into standard Twist target enrichment and capture workflows. Detailed Description Operating Principle Exome sequencing focuses on coding regions and other…

Franklin by QIAGEN is a cloud-based bioinformatics platform designed for the management, analysis, and interpretation of human genomic data. The solution centralizes case evaluation, quality control, variant prioritization, and classification into a structured workflow, facilitating the review and interpretation of complex sequencing data for specialized professionals. Detailed Description This cloud-based bioinformatics software has been developed…

NGS sequencing assay designed for independent sample identity confirmation in WES, WGS, and gene panel workflows, providing an additional layer of traceability and integrity control from sample receipt to final analysis. It generates a unique genetic fingerprint with a simple workflow and an automated report to facilitate data interpretation. Detailed Description Operating Principle The sample…

Exome designed to provide comprehensive coverage of coding regions, with additional content in clinically relevant non-coding regions. Detailed Description Operating Principle SureSelect Clinical Research Exome V4 is based on library preparation and exome capture enrichment, combining broad coverage of human coding regions with enhanced content in clinically relevant non-coding regions. Its design incorporates genomic findings…

Devyser Thalassemia v2 is a fast and robust NGS solution designed for the detection of genetic variants in alpha and beta thalassemia. It offers comprehensive coverage of the globin genes HBA1, HBA2, HBB, HBD, HBG1, and HBG2, and includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number variations (CNVs). Additionally, it…

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…

NGS panel for hereditary cancer studies integrating the analysis of 113 clinically relevant genes with a rapid workflow and high coverage uniformity for the consistent detection of SNVs, indels, and CNVs. Detailed Description Operating Principle An end-to-end solution based on hybrid capture of 113 genes (all exons covered plus ±20 bp regions) and library preparation…

SeqOne is an in vitro diagnostic platform for genetic analysis, designed to help healthcare professionals interpret next-generation sequencing (NGS) and array CGH data. The platform provides qualitative and actionable results, functioning as a clinical decision support system. Key features It is an in vitro diagnostic medical device, Class C with CE-IVD marking and certified according…

Next-generation sequencing kit for the comprehensive analysis of genes associated with familial hypercholesterolemia, including a polygenic risk score and a SNP panel for statin response. Detailed Description Operating Principle The Devyser FH kit is an amplicon-based NGS library preparation solution with a single-tube protocol that enables targeted amplification and sample indexing within a streamlined workflow.…

Comprehensive solution for whole exome sequencing with Illumina technology, combining library preparation by tagmentation with capture-based enrichment, sequencing, and bioinformatics analysis, enabling a single workflow. Detailed Description Operating Principle The workflow uses magnetic bead-linked transposomes (eBLT) for rapid and uniform tagmentation. Following index PCR, a hybrid capture enrichment step is performed using the Twist Bioscience…

Solutions for the study 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 relies on SOPHiA…

Operating Principle: The Devyser CFTR NGS kit redefines the genetic diagnosis of cystic fibrosis by offering a comprehensive and precise solution, validated for clinical use. With a unique single-tube library preparation approach, this kit optimizes the CFTR gene analysis process, significantly reducing hands-on time and contamination risk while improving diagnostic accuracy. Clinical Applications Advances in…

IVDR workflow for whole exome sequencing (WES) that integrates Twist's exclusive double-stranded DNA (dsDNA) probe technology with its library preparation and targeted capture reagents. The result: achieving the best coverage uniformity on the market and superior quality data for clinical environments. Detailed Description Operating Principle The system combines a streamlined library preparation, based on single-tube…

Distinguish mutated alleles from wild type alleles through fragment analysis.

Twist Human Comprehensive Exome and Twist Human Exome 2.0+ are two of the capture solutions for human exome sequencing from Twist Bioscience. The combination of Twist's proprietary double-stranded DNA (dsDNA) probes and its library preparation and capture reagents achieves the best market uniformity of coverage and the lowest duplicate rate, generating the highest quality data…