BOSTON and LAUSANNE, Switzerland, Oct. 12, 2021 /CNW/ -- SOPHiA GENETICS SA
(Nasdaq: SOPH), the creator of a global data pooling and knowledge
sharing platform that advances data-driven medicine, announced
today the launch of SOPHiA Clinical Exome Solution v3, a new
genomic application that offers enhanced probe
design and increased detection capabilities for a
deeper investigation of Mendelian diseases.
SOPHiA Clinical Exome Solution v3 combines a capture-based
target enrichment kit with the analytical capabilities and
interpretation-support functionalities of the SOPHiA DDM™ platform,
offering deep coverage of the target regions and accurate analysis
of multiple types of variants (SNVs, Indels, and CNVs) in one
unique experiment.
With new and improved probe design, rare and inherited disorder
analyses benefit from increased detection capabilities within the
entire mitochondrial genome, as well as non-coding variants in 280
genomic locations known to be disorder-causing. The probe
design is highly optimized for high on-target reads percentage and
coverage uniformity even in GC-rich regions, including the first
exon.
Additionally, with improved analytical performance, institutions
can reach more than 90% analytical sensitivity for CNV detection,
helping them efficiently find the pathogenic needle in the big data
haystack to improve turnaround time and free up resources.
The SOPHiA DDM™ platform analyzes complex NGS data by detecting,
annotating, and pre-classifying multiple types of genomic variants
in all the genes of the panel.
To learn more about the SOPHiA Clinical Exome Solution v3
application, visit
https://www.sophiagenetics.com/clinical/inherited-disorders/rare-diseases/clinical-exome-solution-v3/.
About SOPHiA GENETICS:
SOPHiA GENETICS is a healthcare
technology company 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-based SaaS 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 more than 780 hospital,
laboratory, and biopharma institutions globally.
SOPHiA GENETICS products are for Research Use Only and not
for use in diagnostic procedures, unless specified otherwise.
Information 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@sophiagenertics.com to obtain the
appropriate product information for your country of
residence.
More info: SOPHiAGENETICS.COM;
follow @SOPHiAGENETICS on Twitter.
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 document speak
only as of the date of this press release. 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.
Media Contact:
Eliza
Bamonti
ebamonti@sophiagenetics.com
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content:https://www.prnewswire.com/news-releases/sophia-genetics-offers-new-genomic-application-for-a-deeper-investigation-of-mendelian-diseases-301398521.html
SOURCE SOPHiA GENETICS