A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is application/pdf
.
VarQ: A Tool for the Structural and Functional Analysis of Human Protein Variants
2018
Frontiers in Genetics
Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. Despite the existence of several bioinformatic algorithms and servers that predict if a SAS is pathogenic or not, they give little or no information at all on the reasons for pathogenicity prediction and on the actual predicted effect of the SAS on the protein function.
doi:10.3389/fgene.2018.00620
pmid:30574164
pmcid:PMC6291447
fatcat:mqwz4qfeafasjnblunyg474y4i