Phase Genomics Announces Next Generation Cytogenomics Platform to Advance Precision Diagnosis and Treatment in Reproductive Genetics and Oncology

Phase Genomics leverages its proprietary ultra-long-range sequencing technology in release of new RUO platform: the first high-resolution, low-cost solution to detect chromosome abnormalities

SEATTLE–(BUSINESS WIRE)–#cytogeneticsPhase Genomics, Inc., a biotech company leading advancements in next-generation sequencing (NGS) solutions for genome assembly and analysis, today announced the launch of the beta version of its new platform for next generation cytogenomic applications in the reproductive genetics and oncology spaces.

The platform enables rapid, efficient sample processing and does not require culturing of live, dividing cells nor high-molecular-weight DNA extraction. “This is a fast and inexpensive platform that is capable of providing tremendous benefit towards answering complex genomic questions that existing methods are unable to fully resolve,” said Shawn Sullivan, Co-founder and CTO of Phase Genomics. “The flexibility of this method allows us to use a low starting volume of cells from fresh and frozen material and, most notably, paraffin-embedded tissue. We can deliver an invaluable compendium of genetic information from a single sample without having to wait for results from multiple tests. With our robust chemistry and the machine learning underpinnings of our analytic technology, our platform offers the potential to complement or replace incumbent technologies like cytogenetics, FISH, and CMA in both solid and liquid cancers and in reproductive health.”

While the platform can be broadly applied to constitutional genetics, Phase Genomics sees the immediate utility that it can bring to the prenatal market. According to Sullivan, the platform can help provide answers to the study of patient populations faced with infertility or unexplained repeated pregnancy loss. “For example, our platform can detect cryptic rearrangements potentially causing a couple’s fertility issues, it can uncover novel structural and copy-number changes essential to fetal development in non-viable or paraffin-embedded POC tissue samples and, most importantly, help fuel the translation of these discoveries into clinical tools that will remove emotional, financial and other burdens borne by patients working through these heartbreaking conditions.”

Many of the same challenges exist in oncology. Unlocking and maximizing the use of the genetic information contained in unculturable and paraffin-embedded cancer samples is a unique property of the Phase Genomics platform. Phase Genomics’ Co-founder and CEO Dr. Ivan Liachko stated, “The Phase Genomics ultra-long-range sequencing method and machine learning-enabled analytical platform arm clinical researchers, and eventually, healthcare providers, with a cost-effective, high-throughput, sequencing-based method that delivers actionable information. This information provides insights that can be used in the development of new diagnostic and treatment options for cancer and genetic disease, ultimately leading to improved patient care and outcomes.”

Today’s announcement opens RUO platform access to early beta participants. Phase Genomics is engaged in a number of active partnerships with research and commercial entities and is presenting early results in a poster at the American Society of Human Genetics Conference. The Phase Genomics platform is for research use only and is not for use in diagnostic procedures. More information on the platform is available here.

Join Phase Genomics for a webinar on Tuesday, November 30th to learn more about this technology and follow Phase Genomics on Twitter for the latest news and information.


Phase Genomics applies Hi-C and other proximity-ligation methods to enable chromosome-scale genome assembly, metagenomic deconvolution, as well as analysis of structural genomic variation and genome architecture. They offer a comprehensive portfolio of laboratory and computational services and products, including Hi-C kits for plants, animals, microbes, and human samples as well as industry-leading genome and metagenome assembly and analysis software.

Based in Seattle, WA, the company was founded in 2015 by a team of genome scientists, software engineers, and entrepreneurs. The company’s mission is to empower scientists with genomic tools that accelerate breakthrough discoveries.


Jessica McNellis