WebMar 12, 2024 · The c.100-1G > A mutation, classified as pathogenetic (ACMG) and never described before, affected a canonical splice site and was expected to induce a splicing change. Sanger sequencing confirmed the de novo origin of the mutation, and chromosome analysis revealed a 46, XY karyotype supporting somatic mosaicism for the c.100-1G > A. WebWhile synonymous single-nucleotide variants (sSNVs) have largely been unstudied, since they do not alter protein sequence, mounting evidence suggests that they may affect RNA …
regSNPs-splicing: a tool for prioritizing synonymous single …
WebregSNPs-splicing: A tool for prioritizing synonymous single nucleotide substitution Human Genetics 2024 ExonImpact: Prioritizing Pathogenic Alternative Splicing Events. Hum Mutat ... WebNov 28, 2024 · The RegSNPs-intron algorithm based on a random forest classifier that integrates RNA splicing, protein structure, and evolutionary conservation features enables … convert pgp to txt
regSNPs-splicing: a tool for prioritizing synonymous …
WebNov 28, 2024 · Furthermore, we applied RegSNPs-intron to a GWAS dataset of drug cytotoxicity and experimentally validated the impact of prioritized iSNVs on splicing via ASSET-seq. Taken together, our findings strongly support the overall concept that the RegSNPs-intron algorithm, combined with the ASSET-seq assay, will facilitate studies on … WebVARPIN is an integrated service to prioritize the potentially pathogenic variants without prior programming knowledge. It produce reports by removing unrelated variants and rank the variants based on variant data from the interpretation process. WebRegSNPs-intron showed excellent performance in evaluating the pathogenic impacts of iSNVs. Using a high-throughput functional reporter assay called ASSET-seq (ASsay for … convert phasor to time domain