Testing biotx.ai's AI for wide data in Rare Diseases

Study code

Lead researcher
Marco Schmidt

Study type
Data only

Institution or company
biotx.ai GmbH

Researcher type

Speciality area
Genomics and Rare Diseases


biotx.ai has developed a novel genome analysis tool specifically designed for the analysis of high-dimensional, so-called "wide", data.  This may allow more insights from genetically complex diseases.  For example. we applied our method before to find genes causing Familial Hypercholesterolemia (FH) datasets with less than 300 cases.  FH is a genetic disorder that leads to high blood blood cholesterol levels, eventually to heart attacks in young age and, from there, to a reduced life expectancy.  FH is caused by not a single gene, but by several genes in a complex interaction.  Our rationale with the NIHR BioResource Data is to re-apply our approach for the most high-dimensional data Rare diseases.  Finally, our aim is to investigate how small datasets can be that we can analyse with our approach.  In the long term we hope to provide better diagnostics for Rare Diseases.