Abstract Background The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …

Desmosomal cadherins are a recent evolutionary innovation that make up the adhesive core
of highly specialized intercellular junctions called desmosomes. Desmosomal cadherins …

The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Comparative analysis of primate genomes within a phylogenetic context is essential for
understanding the evolution of human genetic architecture and primate diversity. We present …

Here we present an update to MutationTaster, our DNA variant effect prediction tool. The
new version uses a different prediction model and attains higher accuracy than its …

Anterograde intraflagellar transport (IFT) trains are essential for cilia assembly and
maintenance. These trains are formed of 22 IFT-A and IFT-B proteins that link structural and …

Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …

Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the
time required for sequencing and analysis has been a barrier to its use in acutely ill patients …

Studies have shown that drug targets with human genetic support are more likely to succeed
in clinical trials. Hence, a tool integrating genetic evidence to prioritize drug target genes is …