Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
[HTML][HTML] Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine
Protein stability predictions are becoming essential in medicine to develop novel
immunotherapeutic agents and for drug discovery. Despite the large number of …
immunotherapeutic agents and for drug discovery. Despite the large number of …
SAAFEC-SEQ: a sequence-based method for predicting the effect of single point mutations on protein thermodynamic stability
Modeling the effect of mutations on protein thermodynamics stability is useful for protein
engineering and understanding molecular mechanisms of disease-causing variants. Here …
engineering and understanding molecular mechanisms of disease-causing variants. Here …
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 …
Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional …
E Emadi, F Akhoundi, SM Kalantar, M Emadi-Baygi - BMC genetics, 2020 - Springer
Abstract Background The Human Leukocyte Antigen G (HLA-G) protein is an immune
tolerogenic molecule with 7 isoforms. The change of expression level and some …
tolerogenic molecule with 7 isoforms. The change of expression level and some …
Regulatory features aid interpretation of 3′ UTR variants
L Romo, SD Findlay, CB Burge - The American Journal of Human Genetics, 2024 - cell.com
Our ability to determine the clinical impact of variants in 3′ untranslated regions (UTRs) of
genes remains poor. We provide a thorough analysis of 3′ UTR variants from several …
genes remains poor. We provide a thorough analysis of 3′ UTR variants from several …
Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion
F Ge, Y Zhang, J Xu, A Muhammad… - Briefings in …, 2022 - academic.oup.com
More than 6000 human diseases have been recorded to be caused by non-synonymous
single nucleotide polymorphisms (nsSNPs). Rapid and accurate prediction of pathogenic …
single nucleotide polymorphisms (nsSNPs). Rapid and accurate prediction of pathogenic …
PremPDI estimates and interprets the effects of missense mutations on protein-DNA interactions
N Zhang, Y Chen, F Zhao, Q Yang… - PLoS computational …, 2018 - journals.plos.org
Protein-DNA interactions play important roles in regulations of many vital cellular processes,
including transcription, translation, DNA replication and recombination. Sequence variants …
including transcription, translation, DNA replication and recombination. Sequence variants …
[HTML][HTML] MutTMPredictor: robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins
Transmembrane proteins have critical biological functions and play a role in a multitude of
cellular processes including cell signaling, transport of molecules and ions across …
cellular processes including cell signaling, transport of molecules and ions across …
A comparison on predicting functional impact of genomic variants
Single-nucleotide polymorphism (SNPs) may cause the diverse functional impact on RNA or
protein changing genotype and phenotype, which may lead to common or complex diseases …
protein changing genotype and phenotype, which may lead to common or complex diseases …