Detect chromosomal abnormalities with high resolution across the entire genome

The genetic basis of  disease resistance and susceptibility in humans is far more complex than simple nucleotide changes. Structural variants (SV) involving DNA fragments ≥1 kb— such as inversions, balanced translocations, and genomic imbalances (large insertions and deletions)—can result in rare and inherited diseases. Short- and long-read next-generation sequencing (NGS) have greatly improved the detection and characterization of SVs (over traditional cytogenetic methods such as karyotypic, FISH, and CMA), but still fall short with respect to resolution, characterization of repetitive sequences, and the detection of certain classes and sizes of SVs.

The CytoTerra^® Cytogenetics Platform leverages the unique strengths of Genomic Proximity Mapping™ (GPM) to provide an unbiased, genome-wide, high-resolution view of translocation and inversion breakpoints and CNVs, using a single NGS-based assay. CytoTerra is compatible with a wide range of sample types, thereby unlocking the genetic complexities of rare disease, neurodevelopmental disorders, and reproductive issues. Identify more pathogenic variants, or leverage the power of GPM as an orthogonal method to confirm novel findings or resolve variants detected using other technologies.

		Simultaneously detect all major types of structural variants and CNVs that cause genetic disease, on a genome-wide scale.
		Unlock the wealth of potential diagnostic and prognostic information contained within a variety of sample types. GPM does not require actively dividing cells or high molecular weight DNA extraction.
		Reduce turnaround time and cost by characterizing the breadth of SVs and CNVs in a single, scalable NGS-based assay.

 

 

Unlock the full SV detection power of NGS with GPM 

 

Automated analytics yield actionable results The CytoTerra® Platform provides a sample-to-report NGS-based cytogenetics assay that starts with a biological sample, and ends with a comprehensive and actionable report in standard and sequence-based nomenclature. Fully automated, cloud-based analysis of paired-end, short-read sequencing data is performed with Phase Genomics’ proprietary computational tools. The entire process can be completed in less than a week, and is scalable to large numbers of samples.