Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants
Z Wang, G Zhao, B Li, Z Fang, Q Chen… - Genomics …, 2023 - academic.oup.com
Non-coding variants in the human genome significantly influence human traits and complex
diseases via their regulation and modification effects. Hence, an increasing number of …
diseases via their regulation and modification effects. Hence, an increasing number of …
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 …
A review study: computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases
Abstract Non-Synonymous Single-Nucleotide Variants (nsSNVs) and mutations can create a
diversity effect on proteins as changing genotype and phenotype, which interrupts its …
diversity effect on proteins as changing genotype and phenotype, which interrupts its …
[HTML][HTML] 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 …
[HTML][HTML] ClinPred: prediction tool to identify disease-relevant nonsynonymous single-nucleotide variants
Advances in high-throughput DNA sequencing have revolutionized the discovery of variants
in the human genome; however, interpreting the phenotypic effects of those variants is still a …
in the human genome; however, interpreting the phenotypic effects of those variants is still a …
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants
Non-coding genetic variants outside of protein-coding genome regions play an important
role in genetic and epigenetic regulation. It has become increasingly important to …
role in genetic and epigenetic regulation. It has become increasingly important to …
Predicting regulatory variants with composite statistic
Motivation: Prediction and prioritization of human non-coding regulatory variants is critical
for understanding the regulatory mechanisms of disease pathogenesis and promoting …
for understanding the regulatory mechanisms of disease pathogenesis and promoting …
[HTML][HTML] iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers
M Wang, L Wei - Scientific reports, 2016 - nature.com
Accurate prediction of the pathogenicity of genomic variants, especially nonsynonymous
single nucleotide variants (nsSNVs), is essential in biomedical research and clinical …
single nucleotide variants (nsSNVs), is essential in biomedical research and clinical …
Regulatory Single‐Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants
In silico methods for detecting functionally relevant genetic variants are important for
identifying genetic markers of human inherited disease. Much research has focused on …
identifying genetic markers of human inherited disease. Much research has focused on …
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
Motivation: Technological advances have enabled the identification of an increasingly large
spectrum of single nucleotide variants within the human genome, many of which may be …
spectrum of single nucleotide variants within the human genome, many of which may be …