{"doi":"10.1186/s12864-021-08261-2","title":"Long read sequencing reveals novel isoforms and insights into splicing regulation during cell state changes","abstract":"BACKGROUND: Alternative splicing is a key mechanism underlying cellular differentiation and a driver of complexity in mammalian neuronal tissues. However, understanding of which isoforms are differentially used or expressed and how this affects cellular differentiation remains unclear. Long read sequencing allows full-length transcript recovery and quantification, enabling transcript-level analysis of alternative splicing processes and how these change with cell state. Here, we utilise Oxford Nanopore Technologies sequencing to produce a custom annotation of a well-studied human neuroblastoma cell line SH-SY5Y, and to characterise isoform expression and usage across differentiation. RESULTS: We identify many previously unannotated features, including a novel transcript of the voltage-gated calcium channel subunit gene, CACNA2D2. We show differential expression and usage of transcripts during differentiation identifying candidates for future research into state change regulation. CONCLUSIONS: Our work highlights the potential of long read sequencing to uncover previously unknown transcript diversity and mechanisms influencing alternative splicing.","journal":"BMC Genomics","year":2022,"id":246409,"datarank":0.5533319181170905,"base_score":3.6888794541139363,"endowment":3.6888794541139363,"self_citation_contribution":0.5533319181170905,"citation_network_contribution":0.0,"self_endowment_contribution":0.5533319181170905,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":39,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9468,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":882420,"name":"Nicola Hall","orcid":"0000-0002-3393-3494","position":1,"is_corresponding":false},{"id":882421,"name":"Naomi Irish","orcid":"0009-0007-6897-8426","position":2,"is_corresponding":false},{"id":882422,"name":"Angela Man","orcid":"0000-0002-9596-0068","position":3,"is_corresponding":false},{"id":883024,"name":"Will Glynn","orcid":null,"position":4,"is_corresponding":false},{"id":510274,"name":"Arne W. Mould","orcid":"0000-0002-2004-4348","position":5,"is_corresponding":false},{"id":56480,"name":"Alejandro De Los Angeles","orcid":"0000-0001-9433-501X","position":6,"is_corresponding":false},{"id":883025,"name":"Emily Angiolini","orcid":null,"position":7,"is_corresponding":false},{"id":19919,"name":"David Swarbreck","orcid":"0000-0002-5453-1013","position":8,"is_corresponding":false},{"id":882423,"name":"Karim Gharbi","orcid":"0000-0003-1092-4488","position":9,"is_corresponding":false},{"id":737752,"name":"Elizabeth M. Tunbridge","orcid":"0000-0002-2966-2281","position":10,"is_corresponding":false},{"id":88700,"name":"Wilfried Haerty","orcid":"0000-0003-0111-191X","position":11,"is_corresponding":false},{"id":882419,"name":"David J. Wright","orcid":"0000-0001-8039-1707","position":0,"is_corresponding":true}],"reference_count":74,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T00:23:43.438539Z","pmid":"35012468","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}