Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that introduce
amino acid changes in their corresponding proteins. Because nsSNPs can affect protein …

Whole genome sequencing provides the most comprehensive collection of an individual’s
genetic variation. With the falling costs of sequencing technology, we envision paradigm shift …

Background Olfactory dysfunction (OD) has been reported in coronavirus disease 2019 (COVID-19).
However, there are knowledge gaps about the severity, prevalence, etiology, and …

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

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 …

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

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 provides …

Presented here is a genome sequence of an individual human. It was produced from ∼32
million random DNA fragments, sequenced by Sanger dideoxy technology and assembled …

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. …

A major interest in human genetics is to determine whether a nonsynonymous single-base
nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, …