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SOPHiA DDM for GenomicsSOPHiA GENETICS

Accurately detect and classify variants from complex oncology and rare & inherited disorder data, with information from curated databases and community insights empowering confident decision-making.

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Vendor

SOPHiA GENETICS

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Company Website

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Achieve best-in-class accuracy for your genomic analysis

Accelerate confident decision-making in Oncology and Rare & Inherited Disorders with end-to-end genomics workflows for streamlined sequencing data analysis and interpretation. Reach accurate variant detection, simplified variant prioritization, and expedited reporting.

Overcome bottlenecks and increase confidence in your results

SOPHiA DDM is a leading IVDR-certified* genomics platform that leverages AI algorithms to accurately pinpoint signals within noisy, complex next-generation-sequencing (NGS) datasets. It seamlessly integrates into any genomics workflow to identify causative variants. *When used in Dx mode

Best-in-class accuracy

Detect challenging variants with high confidence using our AI/machine learning algorithms, which excel at calling complex and diverse variant types.

Universal compatibility

Effortlessly integrate our technology-agnostic analytical platform into your existing laboratory setup for any Oncology or Rare & Inherited Disorder application.

Accelerated workflows

Dramatically expedite your interpretation by removing genomic variant analysis barriers with the SOPHiA DDM’s annotation and pre-classification capabilities.

From data to decisions, faster than ever

1. Data upload

Securely log in to our cloud-based platform with 2-step verification. Quickly upload FASTQ files and select from performance pipelines tailored to sample type, chemistry, enrichment kit, and sequencer.

2. Variant calling and annotation

Assess multiple variant types within a single experiment without needing deep bioinformatics expertise. Our somatic and germline pipelines are optimized for targeted to genome-sized applications and provide comprehensive annotation with up-to-date information from >55 world-renowned curated databases, guidelines, and predictors.

3. Prioritization and filtering

Leverage machine learning and guideline-driven ranking to automatically assign pathogenicity levels to identified variants. Through our user-friendly interface, easily apply multiple filtering functions to focus on disease-specific variants, create custom filtering strategies, and/or filter by inheritance mode.

4. Exploration and interpretation

Add context to your variant interpretation. Flag variants and share insights with your disease-specific peer network or the entire SOPHiA GENETICS Community. Enhance your interpretation with direct access to the add-on modules OncoPortal™ and Alamut™ Visual Plus, that provide deeper, more comprehensive insights into your findings.

5. Reporting

Easily generate customized reports using provided templates. Reports are CAP- and CLIA-compliant and include guideline-driven information to support decision making.

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