Results 11 to 20 of about 1,974,376 (233)

An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants

Genes, 2020
Single-nucleotide variants (SNVs) are a major form of genetic variation in the human genome that contribute to various disorders. There are two types of SNVs, namely non-synonymous (missense) variants (nsSNVs) and synonymous variants (sSNVs ...
Emil Alexov
exaly   +3 more sources

Decoding the effects of synonymous variants

bioRxiv, 2021
Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs suffer
Zishuo Zeng, A. Aptekmann, Y. Bromberg
semanticscholar   +2 more sources

Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches. [PDF]

PLoS ONE, 2012
Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the properties of the synthesized protein(s).
Nathan C Edwards, Zachary A Hing, Avital Perry, Adam Blaisdell, David B Kopelman, Robert Fathke, William Plum, Jordan Newell, Courtni E Allen, Geetha S, Aaron Shapiro, Chinyere Okunji, Idit Kosti, Noam Shomron, Vahan Grigoryan, Teresa M Przytycka, Zuben E Sauna, Raheleh Salari, Yael Mandel-Gutfreund, Anton A Komar, Chava Kimchi-Sarfaty   +20 more
doaj   +2 more sources

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Brain, 2020
Synonymous single nucleotide variants (sSNVs) have been implicated in various genetic disorders through alterations of pre-mRNA splicing, mRNA structure and miRNA regulation. However, their impact on synonymous codon usage and protein translation remains
Luis A. Diambra, Marie de Tayrac, Valérie Dupé   +2 more
exaly   +2 more sources

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Human Mutation, 2019
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.
Christoph Friedburg, Bernd Wissinger, Daniel F Schorderet   +2 more
exaly   +2 more sources

Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity

Genomics, 2019
The human genetic diseases associated with many factors, one of these factors is the non-synonymous Single Nucleotide Variants (nsSNVs) cause single amino acid change with another resulting in protein function change leading to disease.
Mahmoud ElHefnawi, A A Shaalan
exaly   +2 more sources

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants

Human Mutation, 2017
Synonymous single‐nucleotide variants (SNVs), although they do not alter the encoded protein sequences, have been implicated in many genetic diseases. Experimental studies indicate that synonymous SNVs can lead to changes in the secondary and tertiary ...
Ping Zhang, Yunlong Liu, Lukas Folkman
exaly   +2 more sources

Non-synonymous mutations of SARS-CoV-2 leads epitope loss and segregates its variants

Microbes and Infection, 2020
The non-synonymous mutations of SARS-CoV-2 isolated from across the world have been identified during the last few months. The surface glycoprotein spike of SARS-CoV-2 forms the most important hotspot for amino acid alterations followed by the ORF1a ...
Sukhendu Mandal, Aayatti Mallick Gupta, Sukhendu Mandal   +2 more
exaly   +2 more sources

Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity [PDF]

Genetics in Medicine Open
Purpose: Clinical variant analysis pipelines likely have poor sensitivity to the effects on splicing from variants beyond 10 to 20 bases of exon-intron boundaries.
Owen R. Hirschi, Stephanie A. Felker, Surya P. Rednam, Kelly L. Vallance, D. Williams Parsons, Angshumoy Roy, Gregory M. Cooper, Sharon E. Plon   +7 more
doaj   +2 more sources

A multispecies approach for comparing sequence evolution of X-linked and autosomal sites in Drosophila [PDF]

, 2008
Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes.
Vicoso, Beatriz, Haddrill, Penelope R, Charlesworth, Brian   +2 more
core   +4 more sources