SOPHiA GENETICS

High analytical accuracy

Call complex and diverse variant types with high confidence, using AI and machine-learning algorithms built for difficult genomic regions.

Universal compatibility

A technology-agnostic analytical platform that integrates effortlessly into your existing laboratory setup for any Oncology or Rare & Inherited Disorder application.

Accelerated workflows

Dramatically expedite interpretation by removing variant-analysis barriers with SOPHiA DDM™'s annotation and pre-classification capabilities.

Where it sits in the Genique stack

SOPHiA GENETICS appears three times in the stack, which is unusual: it supplies library preparation, analysis and reporting, so a lab can run a clinical application end to end on one platform.

• Library preparation: targeted panels for solid tumour, haematology and hereditary applications.
• Analysis and interpretation: the SOPHiA DDM™ platform, including the algorithms for variant calling, annotation and classification.
• Reporting: clinical reports out of the same platform, so there is no handover between analysis and sign-out.
• What Genique pairs it with: AVITI™ sequencing from Element Biosciences upstream. SOPHiA DDM™ picks the run up at FASTQ, so it does its own secondary analysis rather than sitting behind a separate variant caller.

How Genique supports it in India

Supplied and supported by Genique in India as the official channel partner. The bundled solutions pair library preparation with SOPHiA DDM™, so there is wet-lab work to support and not only software.

• Lead time: four weeks from purchase order to delivery. Every item on the current list is held in stock rather than built to order.
• Service: an engineer on site within 24 hours.
• Training: on site, for as many people as the laboratory needs trained rather than a fixed number of seats. Two to three days.
• Consumables: four weeks to replenish, on the same stocked basis as the first order.

Regulatory status in India

SOPHiA GENETICS supplies analysis and reporting software together with its assay content, labelled by the manufacturer for research use.

• Labelling: Research Use Only. That holds even where a product carries CE-IVD, CE-IVDR or FDA marking in another jurisdiction, because an approval granted elsewhere does not travel to India.
• CDSCO: nothing on this page is approved or licensed by the Central Drugs Standard Control Organisation as an in-vitro diagnostic device.
• What accreditation does and does not cover: accreditation of a laboratory evidences the quality system and the method validation under which work is performed. It does not change the regulatory status of an assay.
• What this means for a NABL laboratory: the software supports the interpretation step, and the clinical responsibility for a released report stays with the laboratory and the clinician who sign it.

About SOPHiA GENETICS

SOPHiA GENETICS built SOPHiA DDM™ to interpret complex, multimodal data, spanning genomic, radiomic, clinical, biological, and digital pathology inputs. It turns that data into actionable insight for clinicians treating patients with cancer or rare disease. Hospitals, academic centres, and central laboratories worldwide adopt the platform for its analytical accuracy, faster turnaround, workflow automation, cost efficiency, and decentralised model.

The platform is cloud-native and reaches more than 800 healthcare institutions across over 70 countries, connecting one of the largest networks of healthcare professionals in the field. Its AI sharpens as it processes more real-world data over time, learning from the wider community of users so that shared patterns strengthen the analysis for everyone. Beyond the clinic, SOPHiA GENETICS also works with biopharma partners, applying the same AI to drug discovery, development, and deployment.