{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:37:20Z","timestamp":1791175040208,"version":"4.1.0"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2006,2,22]],"date-time":"2006-02-22T00:00:00Z","timestamp":1140566400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2006,5]]},"DOI":"10.1038\/sj.ejhg.5201590","type":"journal-article","created":{"date-parts":[[2006,2,22]],"date-time":"2006-02-22T10:09:33Z","timestamp":1140602973000},"page":"567-576","source":"Crossref","is-referenced-by-count":72,"title":["Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms"],"prefix":"10.1038","volume":"14","author":[{"given":"Claude","family":"F\u00e9rec","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Casals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Chuzhanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"Milan","family":"Macek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Holubova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitriona","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trudi","family":"McDevitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Castellani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip M","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly","family":"Sheridan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah-Jane","family":"Pantaleo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ourida","family":"Loumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taieb","family":"Messaoud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Cuppens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Torricelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garry R","family":"Cutting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jesus Alonso","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pier Franco","family":"Pignatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Ragu\u00e9n\u00e8s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Pierre","family":"Audr\u00e9zet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Min","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,2,22]]},"reference":[{"key":"BF5201590_CR1","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.1126\/science.2475911","volume":"245","author":"JR Riordan","year":"1989","unstructured":"Riordan JR, Rommens JM, Kerem B et al: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066\u20131073.","journal-title":"Science"},{"key":"BF5201590_CR2","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1126\/science.2570460","volume":"245","author":"B Kerem","year":"1989","unstructured":"Kerem B, Rommens JM, Buchanan JA et al: Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073\u20131080.","journal-title":"Science"},{"key":"BF5201590_CR3","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1002\/humu.10041","volume":"19","author":"JL Bobadilla","year":"2002","unstructured":"Bobadilla JL, Macek Jr M, Fine JP, Farrell PM : Cystic fibrosis: a worldwide analysis of CFTR mutations \u2014 correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575\u2013606.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR4","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H","volume":"15","author":"E Girodon-Boulandet","year":"2000","unstructured":"Girodon-Boulandet E, Cazeneuve C, Goossens M : Screening practices for mutations in the CFTR gene ABCC7. Hum Mutat 2000; 15: 135\u2013149.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR5","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/ng0692-188","volume":"1","author":"C Ferec","year":"1992","unstructured":"Ferec C, Audrezet MP, Mercier B et al: Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992; 1: 188\u2013191.","journal-title":"Nat Genet"},{"key":"BF5201590_CR6","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1093\/hmg\/2.1.51","volume":"2","author":"MP Audrezet","year":"1993","unstructured":"Audrezet MP, Mercier B, Guillermit H et al: Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 1993; 2: 51\u201354.","journal-title":"Hum Mol Genet"},{"key":"BF5201590_CR7","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1007\/s004390100490","volume":"108","author":"C Le Marechal","year":"2001","unstructured":"Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C : Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001; 108: 290\u2013298.","journal-title":"Hum Genet"},{"key":"BF5201590_CR8","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1002\/humu.20009","volume":"23","author":"MP Audrezet","year":"2004","unstructured":"Audrezet MP, Chen JM, Raguenes O et al: Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004; 23: 343\u2013357.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR9","doi-asserted-by":"publisher","first-page":"e118","DOI":"10.1136\/jmg.2004.022400","volume":"41","author":"F Niel","year":"2004","unstructured":"Niel F, Martin J, Dastot-Le Moal F et al: Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004; 41: e118.","journal-title":"J Med Genet"},{"key":"BF5201590_CR10","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/sj.ejhg.5201387","volume":"13","author":"C Bombieri","year":"2005","unstructured":"Bombieri C, Bonizzato A, Castellani C, Assael BM, Pignatti PF : Frequency of large CFTR gene rearrangements in Italian CF patients. Eur J Hum Genet 2005; 13: 687\u2013689.","journal-title":"Eur J Hum Genet"},{"key":"BF5201590_CR11","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1002\/humu.9335","volume":"25","author":"F Chevalier-Porst","year":"2005","unstructured":"Chevalier-Porst F, Souche G, Bozon D : Identification and characterization of three large deletions and a deletion\/polymorphism in the CFTR gene. Hum Mutat 2005; 25: 504.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR12","unstructured":"Hantash FM, Redman JB, Starn K et al: Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet, [E-pub ahead of print]."},{"key":"BF5201590_CR13","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1002\/humu.10212","volume":"21","author":"PD Stenson","year":"2003","unstructured":"Stenson PD, Ball EV, Mort M et al: Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21: 577\u2013581.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR14","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/humu.10254","volume":"22","author":"SS Abeysinghe","year":"2003","unstructured":"Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN : Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat 2003; 22: 229\u2013244.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR15","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1002\/humu.20212","volume":"26","author":"EV Ball","year":"2005","unstructured":"Ball EV, Stenson PD, Krawczak M, Cooper DN, Chuzhanova NA : Micro-deletions and micro-insertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 2005; 26: 205\u2013213.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR16","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1002\/humu.10146","volume":"21","author":"NA Chuzhanova","year":"2003","unstructured":"Chuzhanova NA, Anassis EJ, Ball E, Krawczak M, Cooper DN : Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 2003; 21: 28\u201344.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR17","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1093\/bioinformatics\/15.12.994","volume":"15","author":"VD Gusev","year":"1999","unstructured":"Gusev VD, Nemytikova LA, Chuzhanova NA : On the complexity measures of genetic sequences. Bioinformatics 1999; 15: 994\u2013999.","journal-title":"Bioinformatics"},{"key":"BF5201590_CR18","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1093\/genetics\/112.3.441","volume":"112","author":"P Shen","year":"1986","unstructured":"Shen P, Huang HV : Homologous recombination in Escherichia coli: dependence on substrate length and homology. Genetics 1986; 112: 441\u2013457.","journal-title":"Genetics"},{"key":"BF5201590_CR19","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1086\/301827","volume":"62","author":"LT Reiter","year":"1998","unstructured":"Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR : Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 1998; 62: 1023\u20131033.","journal-title":"Am J Hum Genet"},{"key":"BF5201590_CR20","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/35057062","volume":"409","author":"ES Lander","year":"2001","unstructured":"Lander ES, Linton LM, Birren B et al: Initial sequencing and analysis of the human genome. Nature 2001; 409: 860\u2013921.","journal-title":"Nature"},{"key":"BF5201590_CR21","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1006\/mgme.1999.2864","volume":"67","author":"PL Deininger","year":"1999","unstructured":"Deininger PL, Batzer MA : Alu repeats and human disease. Mol Genet Metab 1999; 67: 183\u2013193.","journal-title":"Mol Genet Metab"},{"key":"BF5201590_CR22","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s00439-005-1321-0","volume":"117","author":"JM Chen","year":"2005","unstructured":"Chen JM, Stenson PD, Cooper DN, Ferec C : A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet 2005; 117: 411\u2013427.","journal-title":"Hum Genet"},{"key":"BF5201590_CR23","doi-asserted-by":"publisher","first-page":"14162","DOI":"10.1073\/pnas.0405974101","volume":"101","author":"A Bacolla","year":"2004","unstructured":"Bacolla A, Jaworski A, Larson JE et al: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004; 101: 14162\u201314167.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201590_CR24","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1038\/35056049","volume":"2","author":"DC van Gent","year":"2001","unstructured":"van Gent DC, Hoeijmakers JHJ, Kanaar R : Chromosomal stability and the DNA double-stranded break connection. Nature Rev Genet 2001; 2: 196\u2013206.","journal-title":"Nature Rev Genet"},{"key":"BF5201590_CR25","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1016\/0022-2836(84)90266-3","volume":"180","author":"DT Weaver","year":"1984","unstructured":"Weaver DT, DePamphilis ML : The role of palindromic and non-palindromic sequences in arresting DNA synthesis in vitro and in vivo. J Mol Biol 1984; 180: 961\u2013986.","journal-title":"J Mol Biol"},{"key":"BF5201590_CR26","volume-title":"Hum Gene Mutation","author":"DN Cooper","year":"1993","unstructured":"Cooper DN, Krawczak M : Hum Gene Mutation. Oxford: BIOS Scientific, 1993."},{"key":"BF5201590_CR27","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1080\/01621459.1991.10475001","volume":"86","author":"S Karlin","year":"1991","unstructured":"Karlin S, Macken C : Some statistical problems in assessment of inhomogeneities of DNA sequence data. J Am Statist Assoc 1991; 86: 27\u201335.","journal-title":"J Am Statist Assoc"},{"key":"BF5201590_CR28","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1007\/s004390050167","volume":"98","author":"C Magnani","year":"1996","unstructured":"Magnani C, Cremonesi L, Giunta A, Magnaghi P, Taramelli R, Ferrari M : Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism. Hum Genet 1996; 98: 102\u2013108.","journal-title":"Hum Genet"},{"key":"BF5201590_CR29","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1002\/humu.20133","volume":"25","author":"JM Chen","year":"2005","unstructured":"Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN : Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat 2005; 25: 207\u2013221.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR30","doi-asserted-by":"publisher","first-page":"3049","DOI":"10.1128\/MCB.9.7.3049","volume":"9","author":"DB Roth","year":"1989","unstructured":"Roth DB, Chang XB, Wilson JH : Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation. Mol Cell Biol 1989; 9: 3049\u20133057.","journal-title":"Mol Cell Biol"},{"key":"BF5201590_CR31","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1136\/jmg.2004.019224","volume":"41","author":"BE Baysal","year":"2004","unstructured":"Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE : An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. J Med Genet 2004; 41: 703\u2013709.","journal-title":"J Med Genet"},{"key":"BF5201590_CR32","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1002\/humu.20202","volume":"26","author":"JM Chen","year":"2005","unstructured":"Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN : Complex gene rearrangements caused by serial replication slippage. Hum Mutat 2005; 26: 125\u2013134.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR33","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1002\/humu.20230","volume":"26","author":"JM Chen","year":"2005","unstructured":"Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN : Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat 2005; 26: 362\u2013373.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR34","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1002\/humu.20253","volume":"26","author":"S Aretz","year":"2005","unstructured":"Aretz S, Stienen D, Uhlhaas S et al: High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513\u2013519.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR35","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1002\/humu.20234","volume":"26","author":"P Albrecht","year":"2005","unstructured":"Albrecht P, Ansperger-Rescher B, Schuler A, Zeschnigk M, Gallie B, Lohmann DR : Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. Hum Mutat 2005; 26: 437\u2013445.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR36","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1038\/sj.ejhg.5201465","volume":"13","author":"T Lalic","year":"2005","unstructured":"Lalic T, Vossen RH, Coffa J et al: Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005; 13: 1231\u20131234.","journal-title":"Eur J Hum Genet"},{"key":"BF5201590_CR37","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/humu.20006","volume":"23","author":"SS Abeysinghe","year":"2004","unstructured":"Abeysinghe SS, Stenson PD, Krawczak M, Cooper DN : Gross Rearrangement Breakpoint Database (GRaBD). Hum Mutat 2004; 23: 219\u2013221.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR38","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1002\/humu.20216","volume":"26","author":"F Charbonnier","year":"2005","unstructured":"Charbonnier F, Baert-Desurmont S, Liang P et al: The 5\u2032region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat 2005; 26: 255\u2013261.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR39","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1007\/s00439-002-0881-5","volume":"112","author":"M Sironi","year":"2003","unstructured":"Sironi M, Pozzoli U, Cagliani R et al: Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet 2003; 112: 272\u2013288.","journal-title":"Hum Genet"},{"key":"BF5201590_CR40","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1006\/geno.2002.6861","volume":"80","author":"L Toffolatti","year":"2002","unstructured":"Toffolatti L, Cardazzo B, Nobile C et al: Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 2002; 80: 523\u2013530.","journal-title":"Genomics"},{"key":"BF5201590_CR41","doi-asserted-by":"publisher","first-page":"1172","DOI":"10.1073\/pnas.97.3.1172","volume":"97","author":"RE Ellsworth","year":"2000","unstructured":"Ellsworth RE, Jamison DC, Touchman JW et al: Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc Natl Acad Sci USA 2000; 97: 1172\u20131177.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201590_CR42","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1016\/0888-7543(91)90503-7","volume":"10","author":"J Zielenski","year":"1991","unstructured":"Zielenski J, Rozmahel R, Bozon D et al: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10: 214\u2013228.","journal-title":"Genomics"},{"key":"BF5201590_CR43","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<337::AID-HUMU13>3.0.CO;2-C","volume":"13","author":"I Lerer","year":"1999","unstructured":"Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A, Abeliovich D : A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online. Hum Mutat 1999; 13: 337.","journal-title":"Hum Mutat"},{"key":"BF5201590_CR44","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1007\/s004390000246","volume":"106","author":"T Dork","year":"2000","unstructured":"Dork T, Macek Jr M, Mekus F et al: Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 2000; 106: 259\u2013268.","journal-title":"Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201590.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201590","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201590.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:36:00Z","timestamp":1684373760000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,22]]},"references-count":44,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["BF5201590"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201590","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,22]]}}}