Pharmacogenomics solution for NGS analysis that combines a capture enrichment kit with the analytical capabilities of the SOPHiA DDM™ platform. It is designed to evaluate and report genomic variants associated with pharmacogenomics in an accelerated manner.
Detailed description
Operating principle
The solution integrates a capture enrichment kit with the bioinformatics analysis of the SOPHiA DDM™ platform. The panel covers coding and some non-coding regions of 41 genes and 1 pseudogene associated with pharmacogenomics.
The probe design is highly optimized to ensure a high percentage of on-target reads and uniformity of coverage, even in GC-rich regions, including the first exon.
Clinical applications
Product intended for pharmacogenomic analysis using NGS, allowing the identification and characterization of genetic variants associated with drug response.
It facilitates the evaluation of relevant genomic information to support the interpretation of interindividual variability in pharmacological response, through the characterization of genes of pharmacogenomic interest and the determination of genotypes and star alleles.
Benefits
Integrated workflow, from target region enrichment to bioinformatics analysis.
Simplifies the detection, annotation and evaluation of pharmacogenomic variants.
Facilitates interpretation through specific filtering and annotation tools.
Generates pharmacogenomics-specific results and output files, including genotypic information for the genes analyzed.
Specialized analysis of complex genes such as CYP2D6.
Reduces the time required for the analysis and interpretation of results.
Secure and unlimited data storage.
Access to the SOPHiA GENETICS community, promoting the exchange of knowledge about variants.
Intended audience/user
Intended for molecular genetics, pharmacogenomics and genomic diagnostics laboratories, as well as professionals specializing in the analysis and interpretation of genetic variants related to drug response.
Considerations
Required starting material: 50 ng of DNA
Starting sample type: DNA extracted from peripheral blood
Key aspects
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Integrated solution for capture enrichment and bioinformatics analysis for pharmacogenomics.
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Coverage of 41 genes and 1 pseudogene of pharmacogenomic interest.
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Detection of SNVs, indels, CNVs and star alleles.
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Specialized module for CYP2D6, including analysis of CNVs, promoter regions/UTRs and determination of star alleles.
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Specific annotation and filtering tools to streamline variant interpretation.
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Generation of a pharmacogenomic report with the genotypic status of the genes included in the panel.
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High analytical performance in terms of sensitivity, precision and specificity.
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Secure data storage.
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Integration with the SOPHiA GENETICS community to facilitate the exchange of knowledge about variants.
Presentation details
Product code: CS2532ILLRGLY10
