The rapid decrease in DNA sequencing cost is revolutionizing medicine and science. In
medicine, genome sequencing has revealed millions of missense variants that change …

Motivation The biological effects of human missense variants have been studied
experimentally for decades but predicting their effects in clinical molecular diagnostics …

Phenylketonuria (PKU) is a genetic disorder caused by variants in the gene encoding
phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine to neurotoxic …

Predicting pathogenicity of missense variants in molecular diagnostics remains a challenge
despite the available wealth of data, such as evolutionary information, and the wealth of …

Global coevolutionary models of protein families have become increasingly popular due to
their capacity to predict residue–residue contacts from sequence information, but also to …

Next-generation sequencing of human genomes reveals millions of missense variants,
some of which may lead to loss of protein function and ultimately disease. Here, we …

The decreased cost of human exome and genome sequencing provides new opportunities
for diagnosing genetic disorders. In order to utilize this information, we need better and more …

DNA sequencing plays an increasingly central role in clinical research and diagnostics.
Genome-wide association studies have established many links between genes and disease …

Protein structure holds immense potential for pathogenicity prediction, albeit structure‐
based predictors are limited compared to the sequence‐based counterparts due to the …

Generative models for protein sequences are important for protein design, mutational effect
prediction and structure prediction. In all of these tasks, the introduction of models which …