CytoTerra^® Cytogenetics Platform

Reveal the Topography of the Genetic Map

The CytoTerra^® Cytogenetics Platform combines the genome-wide structural variation detection power of traditional cytogenetics with the molecular-level precision of chromosomal microarrays and FISH in a single, powerful, NGS-based assay.

Proximity ligation is used to trap short-, long-, and ultra-long-range intracellular DNA contacts (black arcs) from tissue, blood, or other sample types. Chimeric junctions originating from the same cell are recovered, converted into a short-read sequencing library, and subjected to paired-end sequencing. The proximity ligation signal increases as the genomic distance between any two loci across the genome decreases. AI-driven CytoTerra software extrapolates this unique information with a high degree of confidence, enabling the genome-wide detection of all major types of chromosomal abnormalities.

Integrated Bioinformatics for Easy Analysis

CytoTerra® Curator makes managing cytogenetic data simple – no prior bioinformatic knowledge needed. Curator is a data curation platform that enables users to review, revise, and visualize data generated on the CytoTerra Platform. Once data is uploaded to the CytoTerra Platform, it is processed by our suite of variant callers to generate callsets highlighting potential regions of chromosomal aberration. These callsets can be visualized and interacted with on Curator for review and report generation with a click of a button.

Review: View variant calls generated on the CytoTerra platform and compare them to a control genome, allowing for easy interpretation of breakpoint and region variants. Revise: Generate your own callsets by utilizing Curator’s built-in tools to select regions of interest, annotate heat maps, and identify chromosomal aberrations. Report: Create publication-ready visualizations and reports from your selected callsets.

Features

• Identify breakpoint calls (inversions, translocations, insertions, etc.) and regional calls (deletions, duplications, copy neutral loss of heterozygosity, ploidy number, etc.)
• Simultaneously view your sample’s data with control data to easily identify variants
• User-friendly RUO platform – no previous bioinformatics experience needed
• Included with the CytoTerra Platform

Request access to demo Curator with a sample dataset here »

Access Curator here »

CytoTerra^® Workflow

The CytoTerra Platform provides an NGS-based sample-to-report cytogenetics assay that starts with a crude pre- or post-natal sample, and ends with a comprehensive and actionable report in standard ISCN and sequence-based nomenclature.  The entire process (depicted below) can be completed in less than five days and is scalable to large numbers of samples.

The CytoTerra workflow, from sample to report.

A  proximity ligation library is prepared from a biological sample. Paired-end sequencing is performed on the Illumina^® platform. Fully automated, cloud-based analysis is performed with Phase Genomics’  proprietary computational tools.

Application Data
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