SpliceAI is an open-source deep learning splicing prediction algorithm that has
demonstrated in the past few years its high ability to predict splicing defects caused by DNA …

The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …

Abstract The Open Targets Platform (https://platform. opentargets. org/) is an open source
resource to systematically assist drug target identification and prioritisation using publicly …

Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

The release of 150,119 UK Biobank sequences represents an unprecedented opportunity
as a reference panel to impute low-coverage whole-genome sequencing data with high …

The cost of drug discovery and development is driven primarily by failure, with only about
10% of clinical programmes eventually receiving approval,–. We previously estimated that …

The function of the mammalian brain relies upon the specification and spatial positioning of
diversely specialized cell types. Yet, the molecular identities of the cell types, and their …

Associations between human genetic variation and clinical phenotypes have become a
foundation of biomedical research. Most repositories of these data seek to be disease …

Phasing involves distinguishing the two parentally inherited copies of each chromosome
into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and …

The function of the mammalian brain relies upon the specification and spatial positioning of
diversely specialized cell types. Yet, the molecular identities of the cell types and their …