Olympus Platform Overview

HELIOS

PLATFORM

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

GENOMIC KNOWLEDGEBASE

HELIOS PLAFORM

Knowledgebase Consolidation

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.

Genomic Visualization

Unique real-time ‘within-platform’ genomic visualization eliminating data upload and download and maintaining regulatory compliance.

Phenotype Associations

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

ATHENA

Predictive Analytics & ACMG Reporting

OLYMPUS

Clinical Genomic Analysis & Bioinformatics

HELIOS - Genomic Knowledgebase - Annotation & Interpretation

Genenic Annotations from 30+ Databases

CANCER

VARIANT

PATHOGENICITY

PATHWAY

ANALYSIS

PREDICTED

DAMAGING

ALLELE

FREQUENCIES

REGULATORY

REGIONS

CLINICAL

ASSOCIATIONS

SEQUENCE

QUALITY

SEQUENCE

ONTOLOGY

TRANSCRIPT

IDENTITY

GENE

IDENTITY

FUNCTIONAL

IMPACT

ACMG

CLASSIFICATIONS

8.6 Billion Variants

2 Trillion Data Cells

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HELIOS KNOWLEDGEBASE

Consolidating Over 30 Databases for

Clinical Annotation & Interpretation

Variant Effect Prediction Sources

Clinical

Annoation

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.