The SIFT (sorting intolerant from tolerant) algorithm helps bridge the gap between mutations
and phenotypic variations by predicting whether an amino acid substitution is deleterious …

Abstract The Sorting Intolerant from Tolerant (SIFT) algorithm predicts the effect of coding
variants on protein function. It was first introduced in 2001, with a corresponding website that …

The effect of genetic mutation on phenotype is of significant interest in genetics. The type of
genetic mutation that causes a single amino acid substitution (AAS) in a protein sequence is …

Indels in the coding regions of a gene can either cause frameshifts or amino acid
insertions/deletions. Frameshifting indels are indels that have a length that is not divisible by …

Many missense substitutions are identified in single nucleotide polymorphism (SNP) data
and large-scale random mutagenesis projects. Each amino acid substitution potentially …

Predicting the effects of genetic variants on splicing is highly relevant for human genetics.
We describe the framework MMSplice (modular modeling of splicing) with which we built the …

Context: The interpretation of novel missense variants is a challenge with increasing
numbers of such variants being identified and a responsibility to report the findings in the …

Multiple algorithms are used to predict the impact of missense mutations on protein structure
and function using algorithm‐generated sequence alignments or manually curated …

Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify
amino acid substitutions in protein-coding regions. Each substitution has the potential to …

Background Recent advances in sequencing technologies have greatly increased the
identification of mutations in cancer genomes. However, it remains a significant challenge to …