autonomously diagnoses rare diseases

Needle in haystack

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.

What is Moon?

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

Moon has been beta tested and validated at:

The proof of the pudding is in the eating: we sent 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 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 artificial intelligence algorithms, outputs a diagnosis in under 3 minutes. The results can then be verified by a geneticist.

How does Moon perform?

We tested Moon using 100 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 directly 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 10. For cases with family data available, Moon performs even better.


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 causal variant in a ground-breaking 3 minutes. Even with a manual check of the report, exome interpretation could be performed, using Moon, in less than an hour. As such, Moon can be instrumental for this new wave of time-sensitive NGS-based diagnostics.


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 $20 for a clinical geneticist, Moon could save between $380 and $780 per exome. Savings for WGS analyses are even bigger.

Calculate your savings

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 out of date. 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 which 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.


Moon can work with exome data from a single patient, or with data from healthy and/or affected family members. Moon can accept any family configuration.

Moon is aimed at developers of variant analysis software. Moon can be embedded into variant analysis software to offer a more intelligent way of diagnosing rare diseases. In addition, Moon is available for country-wide genome programmes as well as high-throughput genome centres.

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