Webscientific article WebJan 31, 2024 · Zhang et al. developed another tool (termed regSNPs-splicing ) to prioritize sSNVs based on their impact on mRNA splicing and protein function. Recently, Gelfman et al. presented Transcript-inferred Pathogenicity (TraP) score [ 13 ], which can be used to evaluate a sSNV’s ability to cause disease by damaging a gene’s transcripts and protein …
regSNPs-splicing: a tool for prioritizing synonymous single …
Webmutations. Their results suggest that the splicing feature is the dominant factor for disease-causing sSNVs. Zhang et al. developed another tool (termed regSNPs-splicing [12]) to prioritize sSNVs based on their impact on mRNA spli-cing and protein function. Recently, Gelfman et al. pre-sented Transcript-inferred Pathogenicity (TraP) score WebFeb 7, 2011 · Higher score indicates higher probability of being pathologic. splicing_site: Indicates on/off splicing site. Splicing sites are defined as +7bp from donor site and -13bp from acceptor site. features: The rest of columns contain all the genomic and protein structural features around each iSNV. . . . trough explanation
regSNP-intron - IUPUI
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 … WebNov 28, 2024 · Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic … 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 … trough farm shop yeovil