A powerful solution to quickly and effectively annotate and interpret variants across individual cases or patient populations. Translate discovered genetic variants into actionable clinical data. Prioritize and interpret clinically relevant phenotype-associated genes and variants, including ACMG classifications.
ANNOTATION & INTERPRETATION
Consolidates over 30 annotation sources, eliminating the requirement to integrate multiple niche databases and annotation solutions for comprehensive annotation.e
Variant Curation & Prioritization
Unique and comprehensive variant curation capability with Mastermind, eliminating manual reference lookups significantly reducing interpretation time and costs.
ACMG / AMP Clasifications
Advanced and novel algorithms that automate the prioritization of genetic variants according to ACMG classifications for clinical interpretation.
Unique real-time ‘within-platform’ genomic visualization eliminating data upload and download and maintaining regulatory compliance.
Novel capability to contextualize phenotype to genotype through HPO terminology prioritizing gene and variant discoveries according to phenotype, enhancing interpretation capabilities.
CLINICAL GENOMIC ANNOTATION & INTERPRETATION
Automated Data Streaming from NGS Instrument to OLYMPUS
Predictive Analytics & ACMG Reporting
Clinical Genomic Analysis & Bioinformatics
HELIOS - Genomic Knowledgebase - Annotation & Interpretation
Genenic Annotations from 30+ Databases
8.6 Billion Variants
2 Trillion Data Cells
Consolidating Over 30 Databases for
Clinical Annotation & Interpretation
Variant Effect Prediction Sources
Population Frequency Sources
Structural Variant Sources
Mouse, RNA, SNP, & Cytogenic Sources
VCF files are annotated with data from a suite of 30+ curated annotation databases (and private/proprietary databases as needed), with ACMG classifications and pathology reporting including HGVS sequence ontology ranking addressing intergenic, coding and splice distances.