Knowledge Hub

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 Resources
Collaterals
Technical note: How Alamut™ Visual Plus simplifies variant interpretation workflows

Discover how Alamut™ Visual Plus helps you navigate variant interpretation evidence faster and with greater confidence in this clear, practical guide.

Collaterals
Early Access Evaluation of the new SOPHiA DDM™ Community Myeloid Solution

Adapted from Dr. Weei-Yuarn Huang’s (Sunnybrook Health Centre, Ontario, Canada) presentation during the webinar “Evaluating Next-Generation Sequencing Solutions for Real-World Clinical Needs in Myeloid Malignancy,” with permission from the author - This concordance study demonstrates the strong analytical performance of the new SOPHiA DDM™ Community Myeloid Solution and its potential to streamline and consolidate myeloid […]

Collaterals
Technical Note: Advancing pharmacogenomics with NGS and CNV analysis

Routine pharmacogenomic (PGx) testing has significant potential to improve drug efficacy and safety.

Collaterals
Technical Note: Navigating overfitting during machine learning model development

We’re often asked how we avoid overfitting when developing predictive machine learning models for clinical research. This technical note explains how.

Collaterals
Application Note: SOPHiA DDM™ Community Clonality Solution CLL

Streamlined workflow for Chronic Lymphocytic Leukemia study

Collaterals
Application Note: Mitochondrial genome analysis with SOPHiA DDM™ Whole-exome Sequencing

Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome analysis.

Collaterals
Alamut™ Visual Plus Technical Note: Guideline-driven nomenclature for variant analysis

Read our descriptive guide to the HGVS nomenclature standard, genome reference assemblies, and MANE transcripts and how they are applied in Alamut™️ Visual Plus in this Technical Note.

Collaterals
White Paper: Performance Evaluation of the CE-IVD SOPHiA DDM™ Dx RNAtarget Oncology Solution (ROS)

Read our SOPHiA DDM™️ Dx ROS performance evaluation study and make confident data-driven decisions that improve patient care.

Collaterals
Application Note: The SOPHiA DDM™ Platform for Neurological Disorders

Check out our step-by-step guide to using SOPHiA DDM™️ complemented by Alamut™️ Visual Plus to streamline the interpretation of clinical exome data for neurological disorders.

 Resources

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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 to obtain the appropriate product information for your country of residence.

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