SOPHiA DDM™ Nephropathies Solution

SOPHiA DDM™ Nephropathies Solution covers the complete coding sequence (± 5bp of exon-flanking regions) of 44 genes (target region of 105.8 kb) related to a broad range of nephropathies such as nephrotic syndromes, polycystic kidney disorders, Bartter syndromes, Alport syndrome, CAKUT and tubulopathies.

Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.

Specifications

Key Features

Unlock endless possibilities with one platform – Streamline setup and quickly find answers for individuals with genetically inherited diseases with SOPHiA DDM ™ end-to-end workflows. Accurately assess complex variants with a range of ready-to-use and customizable NGS-based applications and community solutions developed and tested by genomic experts.

• Confidence through collaboration – SOPHiA DDM™ Peer Networks bring experts together across laboratories to share variant interpretations, delivering greater confidence and consistency in complex inherited disorder cases. For Dr. Gilles Millat, SOPHiA DDM™ enables rapid end-to-end case analysis and seamless expertise sharing, strengthening variant classification and informing care for inherited cardiac pathologies.

Workflow

Turn raw genomic data into pivotal insights – Simplify your inherited disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.

Analytics

Chart a course through complex genomic data – Propel the identification of variants linked to genetically inherited diseases with the chemistry and technology-agnostic SOPHiA DDM ™ Platform. Leverage AI-driven algorithms and the shared knowledge within the SOPHiA GENETICS community, while also joining disease-specific peer networks to generate collective insights.

• Sensitive SNV and Indel detection – The sophisticated SNV and Indel calling algorithm, PEPPER ™, differentiates true signal from noise specific to each sample type, library prep chemistry, and sequencer. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).
• Accurate CNV calling – The proprietary copy number variation (CNV) calling algorithm, MUSKAT ™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The algorithm accurately detects CNVs across challenging genes like DMD.
• Efficient star allele calling – The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.
• Robust variant annotation – The robust variant annotation algorithm, MOKA ™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.
• Smart variant prioritization – ABCD Pathogenicity Prediction The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.

Documents

• Fact Sheet: SOPHiA DDM™ Nephropathies Solution (RUO)

Ordering Information

For Research Use Only. Not for use in diagnostic procedures.