Predicting the thermodynamic stability of proteins is a common and widely used step in
protein engineering, and when elucidating the molecular mechanisms behind evolution and …

Huntington's disease (HD) is a dominant neurological disorder caused by an expanded HTT
exon 1 CAG repeat that lengthens huntingtin's polyglutamine tract. Lowering mutant …

Homologous recombination (HR) and mismatch repair (MMR) defects are driver mutational
imprints and actionable biomarkers in DNA repair-defective tumors. Although usually …

Unstable proteins are prone to form non-native interactions with other proteins and thereby
may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality …

MMR deficiency (dMMR), and the resultant microsatellite instability (MSI), is one of the most
frequent genetic alterations of the DNA repair systems of cancer. It is most prevalent in the …

Motivation Exhaustive experimental annotation of the effect of all known protein variants
remains daunting and expensive, stressing the need for scalable effect predictions. We …

The wealth of genomic data has boosted the development of computational methods
predicting the phenotypic outcomes of missense variants. The most accurate ones exploit …

Simple Summary Hereditary colorectal cancer syndromes (HCCS) and inflammatory bowel
disease (IBD) carry a high risk of develo** colorectal cancer (CRC). The co-occurrence of …

Human Dual specificity tyrosine (Y)-Regulated Kinase 1A (DYRK1A) is encoded by a
dosage-dependent gene located in the Down syndrome critical region of human …

Background The tumor-agnostic indication of immune checkpoint inhibitors to treat cancers
with mismatch repair deficiency (dMMR)/microsatellite instability (MSI) increased the …