SOPHiA DDM™ Community Extended Pharmacogenomics Solution (ExtPGx)

SOPHiA DDM™ Community Extended Pharmacogenomics Solution combines a capture-based target enrichment kit with the analytical capabilities of the SOPHiA DDM™ Platform, covering 74 genes including a pseudogene, HLA and mtDNA, with star-allele calling.

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

Specifications

Embrace the next generation of pharmacogenomic analysis

Unlock the future of precision medicine with cutting-edge SOPHiA DDM ™ technology powering NGS workflows, delivering unparalleled accuracy and ease.

Our pharmacogenomics applications were developed in collaboration with leading PGx experts to encompass CPIC and FDA recommendations. They quickly and accurately identify PGx-associated genomic variants of clinical significance, powered by the advanced analytics of the SOPHiA DDM™ Platform.

Accurate CNV detection – CNVs are accurately detected by our MUSKAT ™ algorithm alongside SNVs and Indels in a single experiment capable of detecting known and previously undetected variants.

A universal, scalable solution – Our decentralized, technology-agnostic application is compatible with a broad spectrum of laboratory equipment such as liquid handlers for automated library prep.

Efficient star allele calling – Major haplotypes (star alleles) for VIP genes according to PharmVar and PharmGKB are assigned and annotated with phenotypic consequences by our AI agent, STAR ANISE.

Comprehensive output files – Pharmacogenomics-specific output files include the full variant table, star allele results, phenotype information, quality metrics, alignment, and genotyping of selected variants in the Sample Check ID file.

Robust CYP2D6 assessment – CNVs, star alleles, and promoters/UTRs in CYP2D6 are accurately called, including information for CYP2D6/CYP2D7 pseudogene analysis.

Advanced analytical performance – Extensive expertise in probe design and data science ensures high sensitivity, specificity, on-target rates, and coverage uniformity.

Streamline your PGx variant detection and analysis workflow

Boost lab efficiency with an end-to-end pharmacogenomics NGS workflow. Perform next-generation sequencing in house, or leverage SOPHiA DDM ™ Integrated Access Mode to tap into a global network of sequencing labs. All variant detection and interpretation steps are powered by the SOPHiA DDM ™ Platform, giving you full control over your data and samples.

Documents

• Fact Sheet: Community ExtPGx Solution Fact Sheet
• Flyer: SOPHiA DDM™ Pharmacogenomic Solutions

Ordering Information

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