Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Protein secondary structure prediction began in 1951 when Pauling and Corey predicted
helical and sheet conformations for protein polypeptide backbone even before the first …

Predicting one-dimensional structure properties has played an important role to improve
prediction of protein three-dimensional structures and functions. The most commonly …

Insertion/deletion variants (indels) alter protein sequence and length, yet are highly
prevalent in healthy populations, presenting a challenge to bioinformatics classifiers …

Insertions and deletions (indels) represent the second most common type of genetic
variations in human genomes. Indels can be deleterious and contribute to disease …

Protein engineering and characterisation of non-synonymous single nucleotide variants
(SNVs) require accurate prediction of protein stability changes (ΔΔ G u) induced by single …

Motivation Loss-of-function genetic variants are frequently associated with severe clinical
phenotypes, yet many are present in the genomes of healthy individuals. The available …

Up to half of all patients do not respond to pharmacological treatment as intended. A
substantial fraction of these inter-individual differences is due to heritable factors and a …

The increase in sequencing capacity, reduction in costs, and national and international
coordinated efforts have led to the widespread introduction of next-generation sequencing …