SOPHiA DDM™ for Genomics
Data in, answers out
Discover the full power of your genomic data
Next-generation sequencing (NGS) has the potential to revolutionize the diagnosis and treatment of cancers and rare diseases but creates extremely large, complex, and noisy datasets for analysis. Without the right analytical technology, pinpointing causative variants and obtaining actionable insights from NGS data requires specialist skills, multiple resources, and considerable time.
The SOPHiA DDM Platform uses machine learning with patented algorithms to efficiently call, annotate, and pre-classify variants from raw NGS data. User-friendly features streamline prioritization, simplify interpretation, and expedite reporting.
Spot causative variants with confidence
Quickly find answers from complex and noisy NGS data sets and make data-driven decisions with the SOPHiA DDM Platform. High-throughput genomic analysis is possible in any laboratory, with end-to-end workflows tailored to your experimental setting.
From data to insights in 5 steps
1. Login and data upload
Secure login with 2-step verification
Quick upload of FASTQ files
Performance pipelines tailored to sample type, chemistry, enrichment kit, and sequencer
2. Variant calling and annotation
Somatic and germline pipelines, optimized for targeted to exome-sized applications
Single- or multi-sample (trio) analysis
Advanced accuracy across multiple variant types in a single experiment
Detailed quality metrics
No bioinformatics expertise needed
Comprehensive annotation with up-to-date information from >55 world-renowned curated databases, guidelines, and predictors
3. Prioritization and filtering
Variant pathogenicity levels assigned using machine learning complemented by guideline-driven ranking
Multiple filtering functionalities to focus on disease-specific variants, create custom filtering strategies, and/or filter by inheritance mode
4. Exploration and Interpretation
Integrated features contextualize variants
SOPHiA GENETICS Community insights further support variant exploration
User-driven templates for customization
CAP- and CLIA-compliant
Guideline-driven information for decision making
SOPHiA GENETICS Community
Join the SOPHiA GENETICS Community to share knowledge with your peers and confidently interpret variants. The SOPHiA GENETICS Community is one of the largest networks of healthcare institutions, where experts can indicate variant pathogenicity levels with the flagging feature, greatly facilitating interpretation, even of variants of unknown significance.
Secure and private
Trusted cloud capabilities offer robust and unmatched data security compliance for the utmost peace of mind.
ISO 27001 certified
GDPR and HIPAA compliant
Adapts to local laws
SOPHiA DDM for Oncology
Easily manage and efficiently explore your genomic data to characterize and report relevant alterations associated with solid tumors and hematological malignancies.
SOPHiA DDM for Rare and Inherited Diseases
Quickly and accurately analyze the massive amount of data coming from your NGS-based applications (from targeted panels to whole exome) to identify variants associated with rare and inherited disorders.
Delivering deep, impactful insights to BioPharma
Leverage our broad real-world genomic database and AI-driven analytics to support your clinical development strategy and:
- gain insights into biomarker testing practices
- streamline biomarker-driven clinical trial enrollment
- accelerate drug development process