SOPHiA DDM™ Hereditary Cancer Solution v1.1 (HCS v1.1)

SOPHiA DDM™ Hereditary Cancer Solution v1.1 (HCS v1.1) is a capture-based application covering 26 genes plus the PMS2CL pseudogene associated with Hereditary Breast and Ovarian Cancer (HBOC), Lynch and intestinal polyposis syndromes.

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

Accelerate your path to prevention – Confidently assess mutation profiles across diverse cancer types with our comprehensive, guideline-driven portfolio of ready-to-use and customizable applications. Go from sample to report within a single workflow, leveraging insights supported by curated scientific databases and the collective knowledge of our community.

Workflow

Speed up your germline sequencing journey – Streamline your hereditary cancer analysis workflow, from sample to customized report.

Analytics

Turning data into insights – Uncover challenging variants in your germline mutation analysis with the powerful algorithms of the SOPHiA DDM™ Platform.

• Precise Alu insertion detection – Gene rearrangements caused by Alu elements are implicated in several genetic diseases and cancers. Normally, Alu elements create insertions of ~300bp long that cannot be fully covered by a single sequencing read. SOPHiA DDM™ harnesses the “soft-clipping” signals (mismatched reads) to accurately detect and annotate different types of Alu insertions.
• Reliable Boland inversion identification – SOPHiA DDM™ supports identification of an inversion of exons 1-7 in the MSH2 gene. This change, known as Boland inversion, is a frequent cause of unexplained Lynch Syndrome. Our probe design enables the amplification of the Boland inversion for reliable detection by SOPHiA DDM™.
• Clear PMS2/PMS2CL visualization – The detection of germline variants in PMS2 is complicated by the presence of pseudogenes. Through a specific gene-conversion add-on, SOPHiA DDM™ shows variants that are PMS2 gene-like or PMS2CL pseudogene-like in highly homologous and polymorphic regions (i.e. exon 11-15 of PMS2 and corresponding exons of PMS2CL).
• Sensitive SNV and Indel detection – Our sophisticated SNV and Indel calling technology implements relevant analytical modules tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 17 blood samples, the SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0 achieved 100% sensitivity for SNV and Indel calling, 100% precision for SNV calling, and 98.5% precision for Indel calling.
• Accurate CNV calling – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. In an analysis of 11 blood samples, the SOPHiA DDM™ HCS v2.0 achieved 100% sensitivity for CNV calling.
• Robust variant annotation – Our robust annotation algorithm retrieves information from curated databases and uses de novo predictions to establish the likely effects and pathogenicity of genetic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.

Ordering Information

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