{"doi":"10.1093/narcan/zcad034","title":"Single-cell multi-gene identification of somatic mutations and gene rearrangements in cancer","abstract":"In this proof-of-concept study, we developed a single-cell method that provides genotypes of somatic alterations found in coding regions of messenger RNAs and integrates these transcript-based variants with their matching cell transcriptomes. We used nanopore adaptive sampling on single-cell complementary DNA libraries to validate coding variants in target gene transcripts, and short-read sequencing to characterize cell types harboring the mutations. CRISPR edits for 16 targets were identified using a cancer cell line, and known variants in the cell line were validated using a 352-gene panel. Variants in primary cancer samples were validated using target gene panels ranging from 161 to 529 genes. A gene rearrangement was also identified in one patient, with the rearrangement occurring in two distinct tumor sites.","journal":"NAR Cancer","year":2023,"id":354964,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9421,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":563749,"name":"Heon Seok Kim","orcid":"0000-0002-5981-3511","position":1,"is_corresponding":false},{"id":998344,"name":"Sharmili Roy","orcid":"0000-0001-8287-6003","position":2,"is_corresponding":false},{"id":277771,"name":"Anuja Sathe","orcid":"0000-0002-2100-0013","position":3,"is_corresponding":false},{"id":936351,"name":"Carlos Ayala","orcid":null,"position":4,"is_corresponding":false},{"id":567701,"name":"Xiangqi Bai","orcid":"0000-0003-4524-8862","position":5,"is_corresponding":false},{"id":998875,"name":"Alison F. Almeda-Notestine","orcid":null,"position":6,"is_corresponding":false},{"id":795281,"name":"Sarah Haebe","orcid":"0000-0002-6813-5476","position":7,"is_corresponding":false},{"id":795280,"name":"Tanaya Shree","orcid":"0000-0003-0694-3512","position":8,"is_corresponding":false},{"id":11123,"name":"Ronald Levy","orcid":"0000-0003-2061-0650","position":9,"is_corresponding":false},{"id":72306,"name":"Billy T. Lau","orcid":"0000-0002-8934-3370","position":10,"is_corresponding":false},{"id":30882,"name":"Hanlee P. Ji","orcid":"0000-0003-3772-3424","position":11,"is_corresponding":false},{"id":277776,"name":"Susan M. Grimes","orcid":"0000-0003-1144-4128","position":0,"is_corresponding":true}],"reference_count":31,"raw_metadata":null,"created_at":"2026-07-19T01:13:11.976628Z","pmid":"37435532","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":[]}