SOPHiA DDM™ for KAPA HyperExome
From data to insights to confident care
SOPHiA DDM™ for KAPA HyperExome is a fully integrated bioinformatic workflow (FASTQ to Report), designed to streamline your variant analysis, interpretation and reporting.
SOPHiA DDM™ for KAPA HyperExome offers:
• Confident variant detection (including CNVs with exon-level resolution)
• Complete GRCh38/hg38 based analytics for variant annotation
• Comprehensive transcript annotation with MANE
• Easy-to-use platform with integrated features to faciliate your variant filtration and interpretation
• Access to the most updated and trusted databases, such as OMIM and HPO
• Unlimited, secure and scalable cloud-based data storage
• Secure knowledge sharing with peers through the SOPHiA GENETICS community
From data to insights and ultimately to confident care, SOPHiA DDM™ for KAPA HyperExome will save you time, maximize your sequencing output and increase confidence in your results. Contact us today to book a demo and experience the confidence that comes by combining the SOPHiA DDM™ platform with KAPA HyperExome!
Increase confidence in your variant detection
The SOPHiA DDM™ platform enables robust detection and investigation of multiple types of variants, such as SNVs, Indels and CNVs, in one unique experiment. Our patented algorithms generate reliable results, ensuring ~90% analytical sensitivity.*
~90% SensitivityIn two consecutive regions (exons) can be achieved with a recommended sequencing of 80 million reads (40 million fragments)
Focus on the variants that matter most
The SOPHiA DDM™ platform streamlines the interpretation process to help you greatly reduce turnaround time in variant analysis. We offer multiple filtering and prioritization options, such as:
• Cascading filters for rapid, transparent variant investigation
• Access to OMIM, HPO, and other renowned genomic databases
• ACMG pathogenicity scores
• Trio analysis with modes of inheritance
*Results may vary. Data on file. SOPHiA GENETICS does not intend to use or display Roche trademarks and trade names to imply a relationship with, or endorsement or sponsorship of SOPHiA GENETICS or its products by Roche. KAPA and KAPA HYPEREXOME are trademarks of Roche. Roche has not endorsed, sponsored, validated or approved the use of Roche's KAPA HyperExome kit for use with SOPHiA DDM™.
Get a robust and accurate assessment of CNVs
Learn more about SOPHiA DDM™ for Rare Diseases
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