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Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances.

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained

Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner

Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors

A better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF

A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Epigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.