{"doi":"10.1093/bioinformatics/btab199","title":"muCNV: genotyping structural variants for population-level sequencing","abstract":"MOTIVATION: There are high demands for joint genotyping of structural variations with short-read sequencing, but efficient and accurate genotyping in population scale is a challenging task. RESULTS: We developed muCNV that aggregates per-sample summary pileups for joint genotyping of > 100,000 samples. Pilot results show very low Mendelian inconsistencies. Applications to large-scale projects in cloud show the computational efficiencies of muCNV genotyping pipeline. AVAILABILITY: muCNV is publicly available for download at: https://github.com/gjun/muCNV. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.","journal":"Bioinformatics","year":2021,"id":197778,"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":11,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9543,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":49032,"name":"Fritz J. Sedlazeck","orcid":"0000-0001-6040-2691","position":1,"is_corresponding":false},{"id":19733,"name":"Qihui Zhu","orcid":"0000-0003-2401-8443","position":2,"is_corresponding":false},{"id":88448,"name":"Adam C. English","orcid":"0000-0003-2451-4375","position":3,"is_corresponding":false},{"id":57703,"name":"Ginger Metcalf","orcid":"0000-0002-8316-0071","position":4,"is_corresponding":false},{"id":24782,"name":"Hyun Min Kang","orcid":"0000-0002-3631-3979","position":5,"is_corresponding":false},{"id":19741,"name":"Charles Lee","orcid":"0000-0001-7317-6662","position":6,"is_corresponding":false},{"id":1753,"name":"Richard A. Gibbs","orcid":"0000-0002-1356-5698","position":7,"is_corresponding":false},{"id":245381,"name":"Eric Boerwinkle","orcid":"0000-0001-8813-0544","position":8,"is_corresponding":false},{"id":12925,"name":"Goo Jun","orcid":"0000-0003-0891-0204","position":0,"is_corresponding":true}],"reference_count":13,"raw_metadata":null,"created_at":"2026-07-18T23:50:23.532351Z","pmid":"33760063","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":[]}