Tools

Our Human Genetic Tools

Genome Wide

Genome-Wide Association Studies

We use GWAS findings to determine whether common coding and non-coding genetic variants at the gene of interest are strongly associated with susceptibility to disease.

These findings have a high sensitivity to identify tractable drug targets.

Whole Exome Sequencing

Whole exome sequencing can unambiguously identify high-yield drug targets and the required direction of effect for a pharmacological intervention.

Exome Sequencing
Effector

PRIMEx

PRIMEx is our machine-learning algorithm that quantifies the probability that a specific drug target is causal for a disease of interest using large-scale datasets from GWAS.

Mendelian Randomization

Drug development programs with support from Mendelian randomization evidence have a strong track-record of reaching the market. We use Mendelian randomization to assess whether a specific target is causal for the disease of interest.

Mendelian Randomization
Mendelian Genetics

Mendelian Genetics

Heritable rare disease is often caused by highly penetrant Mendelian mutations. We use these findings to identify and validate drug targets often pointing to the direction of effect for the required pharmaceutical intervention.