{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(2)"],"submitter":["Ganesan S"],"pubmed_abstract":["Studying RNA splicing factor mutations is challenging due to difficulties in distinguishing wild-type and mutant cells within complex human tissues and inaccuracies associated with reconstructing splicing signals from short-read sequencing data. Here, we present Genotyping of Transcriptomes (GoT)-Splice, a protocol that overcomes these limitations by combining GoT with enhanced long-read single-cell transcriptome and cell-surface proteomics profiling. We describe steps for long-read library preparation and analysis, followed by cDNA re-amplification, enrichment of mutation of interest, sample indexing, and GoT library preparation. For complete details on the use and execution of this protocol, please refer to Cortés-López et al.<sup>1</sup>."],"journal":["STAR protocols"],"pagination":["102966"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10966806"],"repository":["biostudies-literature"],"pubmed_title":["GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells."],"pmcid":["PMC10966806"],"pubmed_authors":["Chamely P","Gaiti F","Hickey S","Ganesan S","Hawkins AG","Swett AD","Juul S","Cortes-Lopez M","Dai X","Landau DA"],"additional_accession":[]},"is_claimable":false,"name":"GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells.","description":"Studying RNA splicing factor mutations is challenging due to difficulties in distinguishing wild-type and mutant cells within complex human tissues and inaccuracies associated with reconstructing splicing signals from short-read sequencing data. Here, we present Genotyping of Transcriptomes (GoT)-Splice, a protocol that overcomes these limitations by combining GoT with enhanced long-read single-cell transcriptome and cell-surface proteomics profiling. We describe steps for long-read library preparation and analysis, followed by cDNA re-amplification, enrichment of mutation of interest, sample indexing, and GoT library preparation. For complete details on the use and execution of this protocol, please refer to Cortés-López et al.<sup>1</sup>.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-21T21:28:34.169Z","creation":"2025-04-05T18:25:05.145Z"},"accession":"S-EPMC10966806","cross_references":{"pubmed":["38512867"],"doi":["10.1016/j.xpro.2024.102966"]}}