diagnose rare diseases
Moon helps solving cases for:
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.
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.
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 2 minutes. Moon generates a summary discussing the causal variant(s), providing scientific evidence for its choices.
The results can then be verified by clinical or medical geneticists.
“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)
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 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 3! For cases with family data available, Moon performs even better.
See how Moon compares to Exomiser:Download White Paper
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.