Record-breaking genome analysis software from Leuven wins prestigious award in the US

24/05/2018

Bio-IT World announced the 2018 winners of the Best of Show Awards Program to a packed audience at the Bio-IT World Conference & Expo. One of them is Diploid, a Leuven-based company that wants to revolutionize healthcare by bringing genome diagnostics into daily clinical practice. The awards program recognizes the best of the innovative product solutions for the life sciences industry on display at the Bio-IT World conference in Boston.

Diploid won the award for their genome analysis software called 'Moon'. Moon is the first software that uses artificial intelligence to spot genetic mutations within sequenced genomic data and make a preliminary diagnosis in about 4 minutes. 

The software only requires the patient’s gender, age of onset and his/her symptoms - in addition to the genetic data. Moon then goes from whole genome variant data to pinpointing the causal variant in less than 5 minutes.

The software highlights one or a few variants that could explain the patient’s phenotype. For every variant, Moon displays an extensive list of annotations that it mined from the literature, allowing geneticists to easily verify decisions from the AI algorithms. Moon’s speed does not only save a lot of time and money, it also saves lives: Moon has already proven its utility in the NICU at Rady Children’s Hospital (San Diego): .

Guinness World Record holders

In February, Diploid was a crucial part of the process when scientists at the Rady Children's Institute for Genomic Medicine (RCIGM) needed just 19,5 hours to decode rare genetic disorders in newborns through DNA sequencing and breaking a Guinness World Record while doing so.