{"doi":"10.1371/journal.pgen.1007858","title":"Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements","abstract":null,"journal":"PLOS Genetics","year":2019,"id":634714,"datarank":0.5897738449086489,"base_score":3.9318256327243257,"endowment":3.9318256327243257,"self_citation_contribution":0.5897738449086489,"citation_network_contribution":0.0,"self_endowment_contribution":0.5897738449086489,"citer_contribution":0.0,"corpus_percentile":66.9,"corpus_rank":4463,"citation_count":50,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":497738,"name":"Maria Pettersson","orcid":"0000-0003-3120-1625","position":1,"is_corresponding":false},{"id":1646326,"name":"Francesco Vezzi","orcid":"0000-0002-0243-0018","position":2,"is_corresponding":false},{"id":497739,"name":"Josephine Wincent","orcid":"0000-0002-1698-9605","position":3,"is_corresponding":false},{"id":34300,"name":"Max Käller","orcid":"0000-0001-6813-3051","position":4,"is_corresponding":false},{"id":1646327,"name":"Joel Gruselius","orcid":null,"position":5,"is_corresponding":false},{"id":497745,"name":"Daniel Nilsson","orcid":"0000-0001-5831-385X","position":6,"is_corresponding":false},{"id":497744,"name":"Elisabeth Syk Lundberg","orcid":"0000-0001-5692-725X","position":7,"is_corresponding":false},{"id":497746,"name":"Claudia M.B. Carvalho","orcid":"0000-0002-2090-298X","position":8,"is_corresponding":false},{"id":243300,"name":"Anna Lindstrand","orcid":"0000-0003-0806-5602","position":9,"is_corresponding":false},{"id":497740,"name":"Jesper Eisfeldt","orcid":"0000-0003-3716-4917","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements","abstract":"Complex chromosomal rearrangements (CCRs) are rearrangements involving more than two chromosomes or more than two breakpoints. Whole genome sequencing (WGS) allows for outstanding high resolution characterization on the nucleotide level in unique sequences of such rearrangements, but problems remain for mapping breakpoints in repetitive regions of the genome, which are known to be prone to rearrangements. Hence, multiple complementary WGS experiments are sometimes needed to solve the structures of CCRs. We have studied three individuals with CCRs: Case 1 and Case 2 presented with de novo karyotypically balanced, complex interchromosomal rearrangements (46,XX,t(2;8;15)(q35;q24.1;q22) and 46,XY,t(1;10;5)(q32;p12;q31)), and Case 3 presented with a de novo, extremely complex intrachromosomal rearrangement on chromosome 1. Molecular cytogenetic investigation revealed cryptic deletions in the breakpoints of chromosome 2 and 8 in Case 1, and on chromosome 10 in Case 2, explaining their clinical symptoms. In Case 3, 26 breakpoints were identified using WGS, disrupting five known disease genes. All rearrangements were subsequently analyzed using optical maps, linked-read WGS, and short-read WGS. In conclusion, we present a case series of three unique de novo CCRs where we by combining the results from the different technologies fully solved the structure of each rearrangement. The power in combining short-read WGS with long-molecule sequencing or optical mapping in these unique de novo CCRs in a clinical setting is demonstrated.","is_dataset_classified":null,"base_score":3.9318256327243257,"endowment":3.9318256327243257,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"30735495","pmcid":"PMC6368290","openalex_id":"https://openalex.org/W2914476644","authors":[],"funders":[{"funder_name":"Vetenskapsrådet","grant_id":"2013-2603, 2017-02936","title":null},{"funder_name":"Marianne and Marcus Wallenberg foundation","grant_id":"2014-0084","title":null},{"funder_name":"Hjärnfonden","grant_id":"Ulf Lundahl memory fund","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"R03 HD092569","title":null},{"funder_name":"Swedish Research Council","grant_id":"unidentified","title":"unidentified"},{"funder_name":"National Institutes of Health","grant_id":"1R03HD092569-01A1","title":"Discovery and functional characterization of genic variants leading to Robinow syndrome and related skeletal dysplasias."},{"funder_name":"Stockholms Läns Landsting","grant_id":"","title":null},{"funder_name":"Science for Life Laboratory","grant_id":"","title":null},{"funder_name":"Svenska Sällskapet för Medicinsk Forskning","grant_id":"","title":null}],"total_grants":9,"fwci":5.3145,"citation_percentile":0.95994072,"influential_citations":0,"citation_trend":[{"year":2019,"count":5},{"year":2020,"count":13},{"year":2021,"count":6},{"year":2022,"count":9},{"year":2023,"count":5},{"year":2024,"count":6},{"year":2025,"count":5},{"year":2026,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1007858&type=printable","host_type":"journal"},{"url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1007858&type=printable","host_type":"publisher"},{"url":"http://dx.plos.org/10.1371/journal.pgen.1007858","host_type":"publisher"},{"url":"https://doi.org/10.1371/journal.pgen.1007858","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/30735495","host_type":"repository"},{"url":"https://doaj.org/article/3c47f5df33c0416d8db7fb2992acf964","host_type":"repository"},{"url":"http://europepmc.org/pmc/articles/PMC6368290","host_type":"repository"},{"url":"https://figshare.com/articles/dataset/Comprehensive_structural_variation_genome_map_of_individuals_carrying_complex_chromosomal_rearrangements/7696106","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6368290","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC6368290","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC6368290?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.1371/journal.pgen.1007858","host_type":""},{"url":"https://dx.doi.org/10.1371/journal.pgen.1007858","host_type":""},{"url":"https://publications.scilifelab.se/publication/f754205bb071486683b1bde1528c6303","host_type":""}],"fields_of_study":["Genomic variations and chromosomal abnormalities","Genomics and Rare Diseases","Chromosomal and Genetic Variations","0301 basic medicine","0303 health sciences","03 medical and health sciences","Chromosome Mapping","Chromosomes","Female","Gene Rearrangement","Genomic Structural Variation","Humans","Male","Whole Genome Sequencing"],"mesh_terms":["Whole Genome Sequencing","Chromosome Mapping","Chromosomes","Female","Humans","Male","Gene Rearrangement","Genomic Structural Variation"],"keywords":["Breakpoint","Biology","Chromosomal rearrangement","Structural variation","Genetics","Genome","Chromosome","Gene rearrangement","Computational biology","Whole genome sequencing","Bacterial artificial chromosome","Sequence (biology)","Gene","Karyotype","Male","Chromosome Mapping","QH426-470","Chromosomes","Genomic Structural Variation","Humans","Female","Research Article"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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