{"doi":"10.1126/science.aat5641","title":"Three-dimensional genome structures of single diploid human cells","abstract":"Three-dimensional genome structures play a key role in gene regulation and cell functions. Characterization of genome structures necessitates single-cell measurements. This has been achieved for haploid cells but has remained a challenge for diploid cells. We developed a single-cell chromatin conformation capture method, termed Dip-C, that combines a transposon-based whole-genome amplification method to detect many chromatin contacts, called META (multiplex end-tagging amplification), and an algorithm to impute the two chromosome haplotypes linked by each contact. We reconstructed the genome structures of single diploid human cells from a lymphoblastoid cell line and from primary blood cells with high spatial resolution, locating specific single-nucleotide and copy number variations in the nucleus. The two alleles of imprinted loci and the two X chromosomes were structurally different. Cells of different types displayed statistically distinct genome structures. Such structural cell typing is crucial for understanding cell functions.","journal":"Science","year":2018,"id":8397,"datarank":0.9434573356363498,"base_score":6.289715570908998,"endowment":6.289715570908998,"self_citation_contribution":0.9434573356363498,"citation_network_contribution":0.0,"self_endowment_contribution":0.9434573356363498,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":538,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0427,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2018-08-31","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":7149,"name":"Dong Xing","orcid":"0000-0002-8237-481X","position":1,"is_corresponding":false},{"id":7151,"name":"Chi-Han Chang","orcid":"0000-0002-7436-2931","position":2,"is_corresponding":false},{"id":30887,"name":"Alexandra P. Lewis","orcid":"0000-0002-6195-4786","position":3,"is_corresponding":false},{"id":7152,"name":"X. Sunney Xie","orcid":null,"position":4,"is_corresponding":false},{"id":7153,"name":"Xiaohui Xie","orcid":"0000-0002-5479-6345","position":5,"is_corresponding":false},{"id":7150,"name":"Longzhi Tan","orcid":"0000-0002-5618-1299","position":0,"is_corresponding":true}],"reference_count":43,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"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":[]}