Computational approaches for predicting variant impact: An overview from resources, principles to applications
One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …
With the rapid development and wide use of next-generation sequencing (NGS), massive …
In Silico Tools and Approaches for the Prediction of Functional and Structural Effects of Single-Nucleotide Polymorphisms on Proteins: An Expert Review
Single-nucleotide polymorphisms (SNPs) are single-base variants that contribute to human
biological variation and pathogenesis of many human diseases. Among all SNP types …
biological variation and pathogenesis of many human diseases. Among all SNP types …
[HTML][HTML] Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease
S Cevik, N Wangtiraumnuay, K Van Schelvergem… - Molecular …, 2023 - ncbi.nlm.nih.gov
Purpose The retina-specific ABCA transporter, ABCA4, plays an essential role in
translocating retinoids required by the visual cycle. ABCA4 genetic variants are known to …
translocating retinoids required by the visual cycle. ABCA4 genetic variants are known to …
Predicting the functional impact of KCNQ1 variants with artificial neural networks
Recent advances in experimental and computational protein structure determination have
provided access to high-quality structures for most human proteins and mutants thereof …
provided access to high-quality structures for most human proteins and mutants thereof …
Truncated variants of thyroid hormone receptor beta display disease-inflicting malfunctioning at cellular level
Thyroid hormone receptor β (THRβ) is a member of the nuclear receptor superfamily of
ligand-modulated transcription factors. Upon ligand binding, THRβ sequentially recruits the …
ligand-modulated transcription factors. Upon ligand binding, THRβ sequentially recruits the …
[HTML][HTML] Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy
AR Ridgeway, C Shortall, LK Finnegan, R Long… - Genes, 2024 - mdpi.com
Background: An estimated 10–15% of all genetic diseases are attributable to variants in
noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these …
noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these …
Human disease‐causing missense genetic variants are enriched in the evolutionarily ancient domains of the cytosolic aminoacyl‐tRNA synthetase proteins
All life depends on accurate and efficient protein synthesis. The aminoacyl‐tRNA
synthetases (aaRSs) are a family of proteins that play an essential role in protein translation …
synthetases (aaRSs) are a family of proteins that play an essential role in protein translation …
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Background Improving the clinical interpretation of missense variants can increase the
diagnostic yield of genomic testing and lead to personalised management strategies …
diagnostic yield of genomic testing and lead to personalised management strategies …
Unraveling the physiochemical characteristics and molecular insights of Zein protein through structural modeling and conformational dynamics: a synergistic approach …
This research article presents a comprehensive investigation into the three-dimensional
structure, physicochemical characteristics and conformational stability of the Zein protein …
structure, physicochemical characteristics and conformational stability of the Zein protein …
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies
V Vivekanandam, R Ellmers, D Jayaseelan, H Houlden… - Brain, 2023 - academic.oup.com
Accurate determination of the pathogenicity of missense genetic variants of uncertain
significance is a huge challenge for implementing genetic data in clinical practice. In silico …
significance is a huge challenge for implementing genetic data in clinical practice. In silico …