Computational predictors of genetic variant effect have advanced rapidly in recent years.
These programs provide clinical and research laboratories with a rapid and scalable method …

Motivation: Advances in high-throughput genotyping and next generation sequencing have
generated a vast amount of human genetic variation data. Single nucleotide substitutions …

Background With the recent growth of information on sequence variations in the human
genome, predictions regarding the functional effects and relevance to disease phenotypes …

Background Nonsynonymous mutations in the coding regions of human genes are
responsible for phenotypic differences between humans and for susceptibility to genetic …

Genome‐wide association studies (GWAS) and whole‐exome sequencing (WES) generate
massive amounts of genomic variant information, and a major challenge is to identify which …

Variant interpretation remains a central challenge for precision medicine. Missense variants
are particularly difficult to understand as they change only a single amino acid in a protein …

Modern biomedicine is challenged to predict the effects of genetic variation. Systematic
functional assays of point mutants of proteins have provided valuable empirical information …

Protein structure and function can be severely altered by even a single amino acid mutation.
Predictions of mutational effects using extensive artificial intelligence (AI)-based models …

The systematic and accurate description of protein mutational landscapes is a question of
utmost importance in biology, bioengineering, and medicine. Recent progress has been …

Human genetic variation is the incarnation of diverse evolutionary history, which reflects
both selectively advantageous and selectively neutral change. In this study, we catalogue …