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Discover how Henry Ford Health streamlined their genetic testing by moving from three separate assays to a single, powerful exome-based solution. Learn how the SOPHiA DDM™ Exome Solution v3 consolidated their workflows for hereditary cancer, cystic fibrosis, and pharmacogenetics, offering broad gene coverage with a compact assay footprint. Dive into the full story to see how this innovative approach enabled detection of SNVs, Indels, and CNVs in one comprehensive assay, simplifying their germline testing processes.
Do you want to further your understanding of overfitting, or are you interested to learn how we avoid overfitting when developing predictive machine learning models for clinical research? Browse our tech note, which includes a step-by-step, published example of how we developed a model that was able to successfully support the evaluation of kidney cancer tumor upstaging in individual patients.
SOPHiA DDM™ Community CLL Clonality Solution is an all-in-one application developed and tested by European Hemato-Oncology experts within the SOPHiA GENETICS Community for the analysis and stratification of CLL cases. This sample-to-report approach combines an optimized next-generation sequencing (NGS) workflow and the powerful analytics of the SOPHiA DDM™ Platform.
In this study, we demonstrate the effectiveness of the SOPHiA DDM™ application in generating a comprehensive report on the genomic status of CLL in a fictitious case. Download the application note and learn more about the SOPHiA DDM™ Community Clonality Solution CLL.
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Discover what makes SOPHiA DDM™ effective at calling mtDNA variants from exome sequencing data, and see for yourself how in a single workflow, the SOPHiA DDM™️ Platform complemented by Alamut™️ Visual Plus can be used to identify and interpret variants in mtDNA alongside SNVs, Indels, and CNVs in nuclear DNA.
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Our Technical Note outlines the guidelines and standards behind the nomenclature convention deployed in Alamut™ Visual Plus. We also explain how Alamut™ Visual Plus applies them to ensure that variant annotation follows the universally applied standards for variant analysis.
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Discover how our 9-step sample-to-report workflow found the pathogenic variant associated with a neurological disorder from complex, exome-sized data, in a single experiment. The SOPHiA DDM™️ Platform complemented by Alamut™ Visual Plus is utilized to interpret the large amount of genomic data obtained with the SOPHiA DDM™ Clinical Exome Solution v3 (CES v3) from a 7-year-old girl with intellectual disability and developmental delay.
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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 at support@sophiagenetics.com to obtain the appropriate product information for your country of residence.
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