Moon helps solving cases for:

Pinpointing variant

What is Moon?

Moon is an innovative software package that autonomously diagnoses rare diseases using artificial intelligence (A.I.). Moon reduces analysis time from days or weeks to mere minutes, making it the fastest variant interpretation software on the planet.

Diagnosing rare diseases can be like searching for a needle in a haystack.
When interpreting exome data for rare disease diagnostics, geneticists must identify the one or two mutations responsible for the patient’s condition hidden amongst 40,000 variants. This process takes between 20 and 40 hours when performed by highly skilled staff using specialised software (Wenger et al. 2016). This is prohibitively slow for many clinical applications.

Moon changes all this.

Magnet pulling needle from haystack

How does Moon work?

Geneticists upload NGS data as a standard VCF file (e.g. directly from GATK) and they enter the patient's symptoms, gender and age.
Moon takes this input and, using proprietary A.I. algorithms, suggests the causal variant in 2 minutes for WES and in 5 minutes for WGS. For each suggested candidate variant, a wide range of annotations are shown, thereby providing scientific evidence for Moon's choices.
The results can then be verified by clinical geneticists.

2-minute demo
Logo UZA

“The proof of the pudding is in the eating: we uploaded solved cases to test the software and in each case the causal mutation was found in no time…”

Prof. dr. Geert Mortier, MD
Chairman, Department of Medical Genetics
Antwerp University Hospital (UZA)

How does Moon perform?

We tested Moon using 30 real-life single exome cases (without family data) that had previously been solved by our expert geneticists. The cases were previously unknown to Moon, and the software had not been trained on the cases in any way. Moon successfully solved 90% of these cases, with the causal variant appearing at the top of Moon’s list of candidate variants. In 100% of the cases, the causal variant was listed in Moon's top 3! For cases with family data available, Moon performs even better.

See how Moon compares to Exomiser:

Download White Paper
fast rocket


Rapid exome sequencing and interpretation can be useful in the acute care of infants with genetic diseases in neonatal and paediatric intensive care units. Moon can go from standard VCF to clinical report in a ground-breaking 2 minutes for WES data, and in 5 minutes for WGS data. As such, Moon can be instrumental for this new wave of time-sensitive NGS-based diagnostics.

wallet (cost-saving)


By reducing manual analysis time from between 20 and 40 hours per exome (Wenger et al. 2016) to less than an hour, Moon can potentially save between 19 and 39 hours of labor. This means that, at an average hourly labor cost of $40 for a clinical geneticist, Moon could save between $760 and $1,560 per exome interpretation. Savings for WGS analyses are even bigger.

Calculate your savings
up to date

Up to date

Current software packages allow their users to define pipelines which are then applied to every exome analysed. However, because new gene-phenotype correlations are published every day, these pipelines quickly become outdated. Despite this, the gene panels used by these pipelines often remain untouched for months or even years. Moon is different in that it automatically scans the literature on a daily basis, integrating new scientific insights as they are published. As a result, Moon always gives you the best chance of reaching a diagnosis.



Since Moon can operate fully unsupervised, it's the perfect tool to re-run older analyses. Patients for whom no diagnosis is available today, might be diagnosable next month. Or next year. With Moon, infinite interpretation becomes a reality as re-running analyses is easy, fast and cheap.

Free Moon trial

Give Moon a try with your own samples.
Click "Try now" for a web-based demo and a Moon trial account that will allow you
to analyse your own WES or WGS data.

Try now