SOPHiA GENETICS releases new version of Exome Solution
SOPHiA GENETICS,
leader in Data-Driven Medicine, announced today at the American Society of
Human Genetics Annual Meeting (ASHG) the release of the new version of SOPHiA
Whole Exome Solution. This advanced genomic application is reducing the overall
turnaround time, thus accelerating rare disease characterization.
Rare diseases affect roughly 400 million people globally1 Their
cause is genomic in approximately 80%2 of cases. Whole exome
analysis has become key as it is extremely powerful in helping experts detect
rare diseases, but it remains very challenging. A large amount of information
is gathered, making it difficult to properly detect important DNA variations
such as CNVs. However, an accurate identification of CNVs is crucial: on
average, CNVs are present in almost 10% of affected patients and can account
for up to 35% of pathogenic variants.
Leveraging the analytical power of SOPHiA to further support researchers, the
newly released WES application offers healthcare institutions a standardized
genomic solution with exceptional analytical performance. It includes high
resolution (2-5 exons) CNV detection in a single workflow without the need for
any reference sample.
In addition to existing interpretation functionalities such as the ACMG
automated variant classification guidelines, virtual gene panels, and the
variant filter builder, SOPHiA WES now includes Familial Variant Analysis (trio
analysis) to automatically filter variants based on different inheritance modes.
“We use constant feedback we receive from genomic experts worldwide to match
the needs and means of clinical researchers for their genomic investigations,”
saysGioia Althoff, Vice President Genomics Business Area at SOPHiA
GENETICS.”SOPHiA WES now integrates CNV calling with unparalleled resolution
at the exonic level, offering accurate detection of multiple types of variants
in a single workflow.”
The updated SOPHiA Whole Exome Solution helps professionals globally manage the
daunting amount of detected variants and focus solely on the most relevant
ones. With this release, SOPHiA confirms its commitment to overcome
barriers in adopting complex genomic applications worldwide by offering robust
and standardized solutions.