Flagship Platform

Assure: Clarity in prenatal & rare disease diagnostics.

A highly accurate genomics platform for comprehensive SNV, Indel, CNV, and structural variant detection — powered by orthogonal validation and AI-assisted interpretation.

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Assure · Case A-01823Validated

1,284

Variants

Prioritized

Reported

BRCA1

c.5266dupC

SNV

Pathogenic

DMD

Exon 45–52 del

CNV

Pathogenic

FMR1

CGG (200+)

Repeat

Pathogenic

MT-TL1

m.3243A>G

Mito

Likely Path.

CFTR

c.1521_1523del

Indel

Pathogenic

Platform capabilities

Comprehensive variant detection: SNVs, indels, CNVs, SVs, repeat expansions, and mitochondrial variants in one workflow.
Orthogonal validation: Proprietary sequencing and analysis technique with multi-modal validation for clinical-grade accuracy.
AI-assisted interpretation: Machine learning models prioritize variants by pathogenicity and phenotype relevance.
Phenotype-driven prioritization: HPO-based ranking aligns variant evidence with the patient's clinical presentation.
Indian population awareness: GenomeIndia integration improves allele frequency accuracy for the Indian population.
Clinical-grade reporting: Population-aware, ACMG-aligned reports ready for clinical delivery.