A screenshot of AION; our AI-driven variant interpretation platform
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AI-driven variant interpretation in less than 2 minutes

Enhance throughput and diagnostic yield with AION, our CE-IVD certified, automated genetic variant interpretation platform.

benefits

Why AION?

AION allows you to confidently scale your genomic sequencing operations by tackling the interpretation bottleneck.

representation of a white-box ML approach

Fast & Automated

AION provides an exome interpretation in less than 2 minutes. In addition, a comprehensive report and results export are automatically generated.

representation of a white-box ML approach

White-box Approach

We believe that any AI prediction must be verifiable by a human expert. Therefore, AION provides insights into "how" and "why" variants were classified and prioritized.

representation of decision support using our data

Accurate Decision Support

Our unique AI-based platform provides accurate and reliable decision-support at 93.1% sensitivity, as clinically validated on data from the Genomics England 100K Genomes Project.

PROCESS

How does it work?

We combine an intuitive design with in-depth reporting to provide outstanding performance.

step 1

Submit case data

Upload a FASTQ or VCF file, add family members, and define patient characteristics, like symptoms as HPO terms.

Screenshot showing how to submit data on AION, our AI-driven Variant Interpretation platform
Screenshot of reviewing result of processing a case on AION, our AI-driven Variant Interpretation platform
step 2

Review results

Review the rank of most relevant variants and  associated diseases. Our unique white box approach allows you to understand the underlying factors contributing to the classification of a variant as pathogenic or benign.

step 3

Get the full report

Download a full report including all relevant information. The report is available as a PDF and a spreadsheet.

Screenshot of reports on AION, our AI-driven Variant Interpretation platform
why us?

Our unique approach

The AION Knowledge Graph is an advanced algorithm using not only patient data, but also the latest scientific insights from the field

Transparent AI discovering
causative variants

Our AI provides a list of causative variants in an auditable and reproducible manner. It learns from new data, but also benefits from expert knowledge: In addition to 30+ data sources, we have modelled a decade of experience in clinical genetics.

Curated, regularly updated
genomic repository

Regularly updated knowledge database with more than 100 annotations, including a selection of data from high-throughput functional genomics assays that directly reflect the molecular impact of thousands of selected mutations.

AION has outstanding performance in clinical validation.
Performance

Outstanding performance

By combining state-of-the-art artificial intelligence with our regularly updated knowledge base, AION outperforms the rule-based ACMG classification by more than 50%.

The right diagnosis at the right time

For people with genetic diseases, getting the right diagnosis at the right time is critical. With AION you can speed up large parts of your variant interpretation, focus on very complex cases and build a sustainable business.

2min

AION automatically identifies likely pathogenic variants in less than 2 minutes.

>93%

AION detected variants with 93.1% sensitivity on data from the Genomics England 100K Genomes Project.

100+

AION is based on a vast, regularly updated and extended database containing >100 annotations.

Read our white paper to learn more about AION

Download our white paper and learn about AION's clinical validation on the Genomics England 100.000 Genomes Project, as well as latest developments in AI and genomics.

Get started!

AION is easy to use and doesn’t require any integration.

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AION's architecture and procedures are designed to provide the highest standards of security and privacy.

Our platform is GDPR compliant
We maintain the highest level of cloud security
We have a CE-IVD certified version of AION

Want to know more?

Contact us!

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