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SOPHiA - Model DDM - Next-Generation Sequencing (NGS) Software for Genomics
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.
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.
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
- 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
- User-friendly interface
- 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
- Integrated features contextualize variants
- OncoPortal Plus for Oncology – Molecular profiles are matched to therapeutic, diagnostic, and prognostic clinical associations
- Alamut™ Visual Plus for Rare and Inherited Diseases – Variants are visualized in a comprehensive full genome browser
- SOPHiA GENETICS Community insights further support variant exploration
- User-driven templates for customization
- CAP- and CLIA-compliant
- User friendly
- Guideline-driven information for decision making
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.