SOPHiA DDM™ for Rare and Inherited Diseases

Bring clarity to the odyssey

pink dots icon

Genomics is a driving force behind the diagnosis of rare and inherited diseases. Delivering the right answer can take, on average, 8 years or more of extensive and sometimes invasive testing. With comprehensive genomic testing, this timeline can be drastically shortened, but to achieve accurate and reliable answers you need the right tools.

At SOPHiA GENETICS, we have the right solutions for you to confidently interpret next-generation sequencing data for variants associated with complex disease states. Utilize the power of the SOPHiA DDM™ Platform with a wide range of out of the box and custom NGS solutions to fit your workflows. Rare and inherited disease discovery is a journey which can require different testing strategies and we have solutions that adapt to suit your needs.

SOPHiA DDM™ is compatible with multiple panel types and sequencers, allowing your institution to keep the current set-up and maintain flexibility, while taking advantage of one of the most powerful genomic analysis engines. Our efficient sample-to-report workflow can help your institution launch and scale their genomic testing. Check out ways to integrate the SOPHiA DDM™ Platform into your workflow below.

SOPHiA Myeloid Solution Screenshot
pink dots icon

Advanced Analytical Capabilities

Our platform, SOPHiA DDM™, reliably calls and prioritizes variants, turning complex and noisy genomic data sets from exome and targeted NGS panels into valuable insights for data-driven decision making. Combined with the advanced visualization tools of Alamut™ Visual Plus, you can make confident research decisions and deliver comprehensive, customizable reports that effectively communicate key variants and supporting information.

SOPHiA DDM™ Platform

Find answers from complex and noisy genomic data sets, making data-driven decisions faster. Spot relevant variants with confidence utilizing optimized analytical pipelines and intuitive prioritization features for accurate assessment.

Alamut™ Visual Plus

Simplify variant exploration with a full genome browser while maximizing lab workflow efficiency. Increase the quality of genomic analysis with curated genomic and literature databases and advanced visualization tools.

pink dots icon

Flexible Panel Options

We have a broad portfolio of panels, analytical pipelines, and customization options specific to the diseases and genes analyzed in your lab. For diseases with well-defined phenotypes, targeted panels can provide answers in a shorter time and with lower sequencing costs than larger panels. For more complex phenotypes, we offer whole exome and clinical exome sequencing applications to aid in the discovery of relevant variants. Discover more below.

SOPHiA DDM™ for Cardiovascular Diseases

Reduce your turnaround time with NGS applications and optimized analytical pipelines that accurately identify variants linked to the most prevalent inherited arrhythmias and cardiomyopathies.

SOPHiA DDM™ for Neurological Disorders

Quickly and accurately detect variants causing neurological disorders by leveraging on advanced analytical capabilities of SOPHiA DDM™ Platform, streamlining data-driven decision making.

SOPHiA DDM™ for Metabolism

Confidently and rapidly assess the pathogenic role of variants associated with metabolic phenotypes with a streamlined NGS workflow.

SOPHiA DDM™ for Rare Diseases

Efficiently analyze the massive amount of data coming from your NGS-based applications from multiple whole and clinical exome solutions to identify variants associated with rare and inherited disorders.

SOPHiA DDM™ for Pediatric Diseases

Bring clarity to variants associated with rare and inherited pediatric diseases with optimized sample-to-report workflows for analysis of exomes, nephropathies, CFTR, and more.

icon quotes

“My experience with SOPHiA GENETICS has demonstrated that the SOPHiA DDM™ Platform accurately detects single nucleotide variants, indels, and CNVs in gene panels and exome-sized applications.”

Daniel Bellissimo PhD
Director University Pittsburgh Medical Center Clinical Genomics Laboratory

pink dots icon

Let us help you explore variants associated
with rare and inherited diseases.

Contact us today. Our client services team is on hand to help.