The companies expand partnership to enhance genetic variant
interpretation for cancers and rare diseases
BOSTON and ROLLE, Switzerland , Nov. 6, 2024
/PRNewswire-PRWeb/ -- SOPHiA GENETICS (Nasdaq: SOPH), a
cloud-native healthcare technology leader in data-driven medicine,
today announced the next step in the partnership between the
Company and Genomenon, a leading genomic intelligence company, to
support better, data-driven outcomes in the rare disease and
oncology fields. The two companies have expanded the integration of
Genomenon's Mastermind® Genomic Intelligence Platform into SOPHiA
GENETICS' Alamut™ Visual Plus, to empower researchers and clinical
geneticists with a solution that helps accelerate variant
interpretation for rare disorders.
Time is crucial in gathering actionable insights for rare
diseases and cancers due to the complexity and unknown elements of
their genetic underpinnings. Identifying these variants often
involves navigating limited literature and sparse data, as many
rare disorders lack comprehensive studies. Delays in finding
relevant information can hinder accurate analysis and
interpretation of genomic variants. Many rare conditions have no
cure, and easy access to relevant, comprehensive and well-organized
information can help accelerate insights and health decisions.
Alamut™ Visual Plus is an advanced decision-support tool for the
exploration, annotation, and interpretation of genetic variants
from next-generation sequencing (NGS) data. Genomenon's Mastermind®
Genomic Intelligence Platform provides comprehensive curated
evidence for genomic data, as well an indexed content from more
than 10 million full-text articles. The integration of the two
tools significantly enhances variant curation and interpretation by
connecting the Alamut™ Visual Plus comprehensive, full genome
browser for variant interpretation to a vast library of scientific
research, offering critical insights even for rare variants with
limited existing research. This partnership will prove especially
valuable in such cases where findings from only a single study
globally might be available that hold the key to understanding a
variant's pathogenicity. By offering immediate access to a broad
spectrum of indexed data and curated genomic insights, researchers
and clinicians can more efficiently assess the pathogenicity of
variants, enabling them to make informed decisions with greater
confidence.
"We are excited to expand our work with Genomenon and provide
our customers the opportunity to access world-class tools like
Mastermind® through our technology platform." said Ross Muken, President, SOPHiA GENETICS. "This partnership
simultaneously benefits our customers, who will gain a more
comprehensive understanding of detected variants in a seamless,
single platform, while providing Genomenon the opportunity to
broaden its reach through our unmatched global network."
"Collaborating with SOPHiA GENETICS allows us to provide
geneticists and researchers with the most comprehensive and
up-to-date genomic research available as they review patient data
in Alamut," said Mike Klein, CEO of
Genomenon. "The links to Mastermind® from Alamut will put curated
genomic data and the most recent research on every variant at the
fingertips of clinicians assure patient diagnoses are informed by
the most recent scientific findings in a single, complete
workflow."
For more information on SOPHiA GENETICS, visit
SOPHiAGENETICS.COM, or connect on LinkedIn.
About SOPHiA GENETICS
SOPHiA GENETICS (Nasdaq: SOPH) is a cloud-native healthcare
technology company on a mission to expand access to data-driven
medicine by using AI to deliver world-class care to patients with
cancer and rare disorders across the globe. It is the creator of
the SOPHiA DDM™ Platform, which analyzes complex genomic and
multimodal data and generates real-time, actionable insights for a
broad global network of hospital, laboratory, and biopharma
institutions. For more information, visit SOPHiAGENETICS.COM and
connect with us on LinkedIn.
About Genomenon
Genomenon is a leading genomic intelligence company transforming
patient care by uncovering the genomic drivers of genetic disease
and cancer. By combining the power of AI built on the world's
premier genomic data set with genomic expertise, the company
simplifies complex genetic data into actionable insights.
Genomenon's integrated software, data, and services solutions
empower clients with advanced patient diagnosis and precision
medicine development. For more information, visit
GENOMENON.COM.
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 support@sophiagenetics.com 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.
SOPHiA GENETICS Media Contact:
Kelly Katapodis
media@sophiagenetics.com
Genomenon Media Contact:
Colleen McMillen
cmcmillen@genomenon.com
Media Contact
Colleen McMillen,
https://www.genomenon.com, 9173449360, cmcmillen@genomenon.com,
https://www.genomenon.com
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SOURCE Genomenon