The University of Maryland Medical Center Chooses SOPHiA GENETICS Technology

SOPHiA GENETICS supports The University of Maryland Medical Center to advance their rare disease research

BOSTON & LAUSANNE, Switzerland–(BUSINESS WIRE)–SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space and a leader in data-driven medicine, today announced that the University of Maryland Medical Center (UMMC) is using SOPHiA GENETICS technology to enhance their capabilities around rare disease detection and treatment. UMMC has chosen SOPHiA Whole Exome Solution™ v2, a next-generation sequencing (NGS)-based application that provides a streamlined end-to-end workflow, to accelerate its rare and inherited disease research.

Rare diseases are estimated to affect over 30 million people in the United States, with more than 10,000 genetic and rare diseases currently known.1 NGS of the human exome analyzes exons, the protein-coding regions of the human genome, and has the potential to help detect and identify rare diseases. While whole-exome sequencing is reliable and cost-effective, it produces vast and complex genomic data sets. The SOPHiA Whole Exome Solution™ v2 is designed to aid users in sorting and analyzing these complex data sets.

The implementation of SOPHiA Whole Exome Solution ™ v2 will support UMMC’s work in furthering research of the rare diseases that are affecting millions of people each year. In addition, the technology will allow UMMC to deepen its in-house knowledge, making it faster for researchers to identify and categorize rare diseases.

The SOPHiA Whole Exome Solution™ v2 targets nuclear genes and the full mitochondrial genome. Coupled with the SOPHiA DDM™ Platform, the solution uses artificial intelligence and machine learning to analyze and interpret the data, increasing efficiency for researchers.

“UMMC’s implementation of SOPHiA Whole Exome Solution™ v2 will help to further our work at SOPHiA GENETICS to make data-driven medicine more accessible for patients worldwide,” said Ken Freedman, Chief Revenue Officer, SOPHiA GENETICS. “The identification of rare diseases is complex, timely and costly. Our technology is designed to ease the burden for researchers and allow them to more thoroughly and quickly analyze complex datasets, benefitting the rare disease community as a whole.”

As part of their research, UMMC will work to characterize the genetic basis of inherited rare disorders, including mitochondrial variants. Mutations in mitochondrial DNA (mtDNA) cause a diverse range of diseases affecting a substantial portion of the rare disease community.2 NGS of the mitochondrial genome, alongside the exome, is therefore valuable in rare disease research. SOPHiA DDM™ Platform’s sophisticated algorithms will help to address the unique challenges associated with the mitochondrial genome and further expedite the work of researchers at UMMC.

For more information on SOPHiA GENETICS, visit SOPHiAGENETICS.COM, or connect on Twitter, LinkedIn, Facebook, and Instagram.

About SOPHiA GENETICS

SOPHiA GENETICS (Nasdaq: SOPH) is a cloud-native software company in the healthcare space dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM™ Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM™ Platform and related solutions, products and services are currently used by a broad global network of hospitals, academic centers, laboratories and biopharma institutions. For more information, visit SOPHiAGENETICS.COM, or connect on Twitter, LinkedIn, Facebook, and Instagram. Where others see data, we see answers.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures, unless specified otherwise. The information in this press release is about products that may or may not be available in different countries and, if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS Forward-Looking Statements:

This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products, and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management’s beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

1 https://rarediseases.info.nih.gov/

2 https://www.sophiagenetics.com/clinical/rare-and-inherited-diseases/rare-diseases/

Contacts

Media:
Nick Puleo

[email protected]

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