Poster: Comprehensive genome analysis with SOPHiA DDM™ for low-pass and 30x WGS

WGS holds enormous promise for rare disease assessment but realizing that promise depends on having analytical solutions robust enough to handle the full spectrum of genomic variation.

This poster presents our SOPHiA DDM™ offerings for WGS: two complementary workflows designed to meet different analytical needs. The low-pass WGS application (lpWGS, 5x) offers a cost-effective route to detection of CNVs and regions of homozygosity, while the 30x WGS application supports full-spectrum variant analysis covering SNVs, indels, CNVs, balanced structural variants, and mitochondrial variants, within a single, end-to-end platform workflow.

The poster covers the analytical performance of both applications, evaluated against well-characterized reference cohorts spanning genetically diverse populations, and illustrates their utility through a series of retrospective rare disease cases.

View the poster to explore the workflow architecture, performance data, and case examples.

SOPHiA DDM™ for WGS is for Research Use Only (RUO).

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Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are those of the speakers and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
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 us at [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. 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 us to obtain the appropriate product information for your country of residence.

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