{"doi":"10.1126/science.ado5978","title":"Multiplex generation and single-cell analysis of structural variants in mammalian genomes","abstract":"Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) methods to generate, map, and characterize SVs in model systems are underdeveloped. To address these challenges, we developed Genome-Shuffle-seq, a method that enables the multiplex generation and mapping of thousands of SVs (deletions, inversions, translocations, and extrachromosomal circles) throughout mammalian genomes. We also demonstrate the co-capture of SV identity with single-cell transcriptomes, facilitating the measurement of SV impact on gene expression. We anticipate that Genome-Shuffle-seq will be broadly useful for the systematic exploration of the functional consequences of SVs on gene expression, the chromatin landscape, and three-dimensional nuclear architecture, while also initiating a path toward a minimal mammalian genome.","journal":"Science","year":2025,"id":510402,"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":20,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9493,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":332458,"name":"Jean‐Benoît Lalanne","orcid":"0000-0001-8753-0669","position":1,"is_corresponding":false},{"id":36581,"name":"Riza M. Daza","orcid":"0000-0003-1635-8675","position":2,"is_corresponding":false},{"id":229538,"name":"Sanjay Kottapalli","orcid":null,"position":3,"is_corresponding":false},{"id":1367478,"name":"Faaiz Quaisar","orcid":null,"position":4,"is_corresponding":false},{"id":857597,"name":"Jonas Koeppel","orcid":"0000-0003-1306-3994","position":5,"is_corresponding":false},{"id":343915,"name":"Riddhiman K. Garge","orcid":"0000-0002-6774-0172","position":6,"is_corresponding":false},{"id":348958,"name":"Xiaoyi Li","orcid":"0000-0001-6433-5262","position":7,"is_corresponding":false},{"id":553729,"name":"David Lee","orcid":"0000-0001-6539-4272","position":8,"is_corresponding":false},{"id":36510,"name":"Jay Shendure","orcid":"0000-0002-1516-1865","position":9,"is_corresponding":false},{"id":996146,"name":"Sudarshan Pinglay","orcid":"0000-0002-8781-1476","position":0,"is_corresponding":true}],"reference_count":79,"raw_metadata":null,"created_at":"2026-07-19T02:47:36.538276Z","pmid":"39883753","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":[]}