{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T15:02:51Z","timestamp":1726758171181},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"abstract":"Abstract<\/jats:title>\n Background<\/jats:title>\n To date, 35 human diseases, some of which also exhibit anticipation, have been associated with unstable repeats. Anticipation has been reported in a number of diseases in which repeat expansion may have a role in etiology. Despite the growing importance of unstable repeats in disease, currently no resource exists for the prioritization of repeats. Here we present Satellog, a database that catalogs all pure 1\u201316 repeat unit satellite repeats in the human genome along with supplementary data. Satellog analyzes each pure repeat in UniGene clusters for evidence of repeat polymorphism.<\/jats:p>\n <\/jats:sec>\n Results<\/jats:title>\n A total of 5,546 such repeats were identified, providing the first indication of many novel polymorphic sites in the genome. Overall, polymorphic repeats were over-represented within 3'-UTR sequence relative to 5'-UTR and coding sequence. Interestingly, we observed that repeat polymorphism within coding sequence is restricted to trinucleotide repeats whereas UTR sequence tolerated a wider range of repeat period polymorphisms. For each pure repeat we also calculate its repeat length percentile rank, its location either within or adjacent to EnsEMBL genes, and its expression profile in normal tissues according to the GeneNote database.<\/jats:p>\n <\/jats:sec>\n Conclusion<\/jats:title>\n Satellog provides the ability to dynamically prioritize repeats based on any of their characteristics (i.e. repeat unit, class, period, length, repeat length percentile rank, genomic co-ordinates), polymorphism profile within UniGene, proximity to or presence within gene regions (i.e. cds, UTR, 15 kb upstream etc.), metadata of the genes they are detected within and gene expression profiles within normal human tissues. Unstable repeats associated with 31 diseases were analyzed in Satellog to evaluate their common repeat properties. The utility of Satellog was highlighted by prioritizing repeats for Huntington's disease and schizophrenia. Satellog is available online at http:\/\/satellog.bcgsc.ca<\/jats:ext-link>.<\/jats:p>\n <\/jats:sec>","DOI":"10.1186\/1471-2105-6-145","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T06:14:07Z","timestamp":1118470447000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Satellog: A database for the identification and prioritization of satellite repeats in disease association studies"],"prefix":"10.1186","volume":"6","author":[{"given":"Perseus I","family":"Missirlis","sequence":"first","affiliation":[]},{"given":"Carri-Lyn R","family":"Mead","sequence":"additional","affiliation":[]},{"given":"Stefanie L","family":"Butland","sequence":"additional","affiliation":[]},{"given":"BF Francis","family":"Ouellette","sequence":"additional","affiliation":[]},{"given":"Rebecca S","family":"Devon","sequence":"additional","affiliation":[]},{"given":"Blair R","family":"Leavitt","sequence":"additional","affiliation":[]},{"given":"Robert A","family":"Holt","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2005,6,10]]},"reference":[{"key":"470_CR1","first-page":"10","volume":"51","author":"PS Harper","year":"1992","unstructured":"Harper PS, Harley HG, Reardon W, Shaw DJ: Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 1992, 51: 10\u201316.","journal-title":"Am J Hum Genet"},{"key":"470_CR2","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","volume":"65","author":"AJ Verkerk","year":"1991","unstructured":"Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65: 905\u2013914. 10.1016\/0092-8674(91)90397-H","journal-title":"Cell"},{"key":"470_CR3","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1126\/science.1675488","volume":"252","author":"EJ Kremer","year":"1991","unstructured":"Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI: Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991, 252: 1711\u20131714.","journal-title":"Science"},{"key":"470_CR4","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/352077a0","volume":"352","author":"AR La Spada","year":"1991","unstructured":"La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352: 77\u201379. 10.1038\/352077a0","journal-title":"Nature"},{"key":"470_CR5","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000072837","volume":"100","author":"JD Cleary","year":"2003","unstructured":"Cleary JD, Pearson CE: The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence. Cytogenet Genome Res 2003, 100: 25\u201355. 10.1159\/000072837","journal-title":"Cytogenet Genome Res"},{"key":"470_CR6","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/ng0194-9","volume":"6","author":"R Koide","year":"1994","unstructured":"Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, et al.: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994, 6: 9\u201313. 10.1038\/ng0194-9","journal-title":"Nat Genet"},{"key":"470_CR7","doi-asserted-by":"crossref","unstructured":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group Cell 1993, 72: 971\u2013983. 10.1016\/0092-8674(93)90585-E","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"470_CR8","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1038\/ng0894-513","volume":"7","author":"S Banfi","year":"1994","unstructured":"Banfi S, Servadio A, Chung MY, Kwiatkowski TJJ, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY: Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994, 7: 513\u2013520. 10.1038\/ng0894-513","journal-title":"Nat Genet"},{"key":"470_CR9","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng1196-285","volume":"14","author":"G Imbert","year":"1996","unstructured":"Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats. Nat Genet 1996, 14: 285\u2013291. 10.1038\/ng1196-285","journal-title":"Nat Genet"},{"key":"470_CR10","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1038\/ng0696-196","volume":"13","author":"H Ikeda","year":"1996","unstructured":"Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A: Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996, 13: 196\u2013202. 10.1038\/ng0696-196","journal-title":"Nat Genet"},{"key":"470_CR11","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/ng0197-62","volume":"15","author":"O Zhuchenko","year":"1997","unstructured":"Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997, 15: 62\u201369. 10.1038\/ng0197-62","journal-title":"Nat Genet"},{"key":"470_CR12","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1038\/ng0997-65","volume":"17","author":"G David","year":"1997","unstructured":"David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997, 17: 65\u201370. 10.1038\/ng0997-65","journal-title":"Nat Genet"},{"key":"470_CR13","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/S0079-6123(08)64029-7","volume":"117","author":"CA Ross","year":"1998","unstructured":"Ross CA, Margolis RL, Becher MW, Wood JD, Engelender S, Cooper JK, Sharp AH: Pathogenesis of neurodegenerative diseases associated with expanded glutamine repeats: new answers, new questions. Prog Brain Res 1998, 117: 397\u2013419.","journal-title":"Prog Brain Res"},{"key":"470_CR14","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1146\/annurev.genom.1.1.281","volume":"1","author":"CJ Cummings","year":"2000","unstructured":"Cummings CJ, Zoghbi HY: Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 2000, 1: 281\u2013328. 10.1146\/annurev.genom.1.1.281","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"470_CR15","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1038\/386847a0","volume":"386","author":"MD Lalioti","year":"1997","unstructured":"Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE: Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997, 386: 847\u2013851. 10.1038\/386847a0","journal-title":"Nature"},{"key":"470_CR16","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/79911","volume":"26","author":"T Matsuura","year":"2000","unstructured":"Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T: Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000, 26: 191\u2013194. 10.1038\/79911","journal-title":"Nat Genet"},{"key":"470_CR17","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","volume":"68","author":"JD Brook","year":"1992","unstructured":"Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al.: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992, 68: 799\u2013808. 10.1016\/0092-8674(92)90154-5","journal-title":"Cell"},{"key":"470_CR18","doi-asserted-by":"publisher","first-page":"1760","DOI":"10.1093\/brain\/awf184","volume":"125","author":"CM Greco","year":"2002","unstructured":"Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ: Neuronal intranuclear inclusions in a new cerebellar tremor\/ataxia syndrome among fragile X carriers. Brain 2002, 125: 1760\u20131771. 10.1093\/brain\/awf184","journal-title":"Brain"},{"key":"470_CR19","doi-asserted-by":"publisher","first-page":"3079","DOI":"10.1093\/hmg\/ddh327","volume":"13","author":"H Jiang","year":"2004","unstructured":"Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA: Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 2004, 13: 3079\u20133088. 10.1093\/hmg\/ddh327","journal-title":"Hum Mol Genet"},{"key":"470_CR20","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1136\/jmg.35.4.305","volume":"35","author":"MC Speer","year":"1998","unstructured":"Speer MC, Gilchrist JM, Stajich JM, Gaskell PC, Westbrook CA, Horrigan SK, Bartoloni L, Yamaoka LH, Scott WK, Pericak-Vance MA: Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. J Med Genet 1998, 35: 305\u2013308.","journal-title":"J Med Genet"},{"key":"470_CR21","doi-asserted-by":"publisher","first-page":"2322","DOI":"10.1111\/j.1572-0241.1998.02322.x","volume":"93","author":"TM Bayless","year":"1998","unstructured":"Bayless TM, Picco MF, LaBuda MC: Genetic anticipation in Crohn's disease. Am J Gastroenterol 1998, 93: 2322\u20132325. 10.1111\/j.1572-0241.1998.02322.x","journal-title":"Am J Gastroenterol"},{"key":"470_CR22","first-page":"990","volume":"59","author":"M Horwitz","year":"1996","unstructured":"Horwitz M, Goode EL, Jarvik GP: Anticipation in familial leukemia. Am J Hum Genet 1996, 59: 990\u2013998.","journal-title":"Am J Hum Genet"},{"key":"470_CR23","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1136\/ard.57.9.524","volume":"57","author":"GD Wright","year":"1998","unstructured":"Wright GD, Regan M, Deighton CM, Wallis G, Doherty M: Evidence for genetic anticipation in nodal osteoarthritis. Ann Rheum Dis 1998, 57: 524\u2013526.","journal-title":"Ann Rheum Dis"},{"key":"470_CR24","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1212\/WNL.44.10.1978","volume":"44","author":"V Bonifati","year":"1994","unstructured":"Bonifati V, Vanacore N, Meco G: Anticipation of onset age in familial Parkinson's disease. Neurology 1994, 44: 1978\u20131979.","journal-title":"Neurology"},{"key":"470_CR25","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1136\/ard.55.7.475","volume":"55","author":"E McDermott","year":"1996","unstructured":"McDermott E, Khan MA, Deighton C: Further evidence for genetic anticipation in familial rheumatoid arthritis. Ann Rheum Dis 1996, 55: 475\u2013477.","journal-title":"Ann Rheum Dis"},{"key":"470_CR26","first-page":"408","volume":"56","author":"S Bleyl","year":"1995","unstructured":"Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K: A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. Am J Hum Genet 1995, 56: 408\u2013415.","journal-title":"Am J Hum Genet"},{"key":"470_CR27","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/S0165-1781(98)00045-6","volume":"79","author":"K Ohara","year":"1998","unstructured":"Ohara K, Suzuki Y, Ushimi Y, Yoshida K: Anticipation and imprinting in Japanese familial mood disorders. Psychiatry Res 1998, 79: 191\u2013198. 10.1016\/S0165-1781(98)00045-6","journal-title":"Psychiatry Res"},{"key":"470_CR28","first-page":"864","volume":"54","author":"AS Bassett","year":"1994","unstructured":"Bassett AS, Honer WG: Evidence for anticipation in schizophrenia. Am J Hum Genet 1994, 54: 864\u2013870.","journal-title":"Am J Hum Genet"},{"key":"470_CR29","first-page":"630","volume":"60","author":"AS Bassett","year":"1997","unstructured":"Bassett AS, Husted J: Anticipation or ascertainment bias in schizophrenia? Penrose's familial mental illness sample. Am J Hum Genet 1997, 60: 630\u2013637.","journal-title":"Am J Hum Genet"},{"key":"470_CR30","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1176\/ajp.155.5.590","volume":"155","author":"M Battaglia","year":"1998","unstructured":"Battaglia M, Bertella S, Bajo S, Binaghi F, Bellodi L: Anticipation of age at onset in panic disorder. Am J Psychiatry 1998, 155: 590\u2013595.","journal-title":"Am J Psychiatry"},{"key":"470_CR31","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/S0165-1781(99)00106-7","volume":"89","author":"K Ohara","year":"1999","unstructured":"Ohara K, Suzuki Y, Ochiai M, Yoshida K: Age of onset anticipation in anxiety disorders. Psychiatry Res 1999, 89: 215\u2013221. 10.1016\/S0165-1781(99)00106-7","journal-title":"Psychiatry Res"},{"key":"470_CR32","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1093\/nar\/27.2.573","volume":"27","author":"G Benson","year":"1999","unstructured":"Benson G: Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 1999, 27: 573\u2013580. 10.1093\/nar\/27.2.573","journal-title":"Nucleic Acids Res"},{"key":"470_CR33","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1101\/gr.229102. Article published online before print in May 2002","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D: The human genome browser at UCSC. Genome Res 2002, 12: 996\u20131006. 10.1101\/gr.229102. Article published online before print in May 2002","journal-title":"Genome Res"},{"key":"470_CR34","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/ng0795-344","volume":"10","author":"SS Chong","year":"1995","unstructured":"Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY: Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1995, 10: 344\u2013350. 10.1038\/ng0795-344","journal-title":"Nat Genet"},{"key":"470_CR35","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/ng1193-254","volume":"5","author":"MY Chung","year":"1993","unstructured":"Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT: Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 1993, 5: 254\u2013258. 10.1038\/ng1193-254","journal-title":"Nat Genet"},{"key":"470_CR36","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1016\/0092-8674(94)90134-1","volume":"77","author":"CB Kunst","year":"1994","unstructured":"Kunst CB, Warren ST: Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994, 77: 853\u2013861. 10.1016\/0092-8674(94)90134-1","journal-title":"Cell"},{"key":"470_CR37","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","volume":"271","author":"V Campuzano","year":"1996","unstructured":"Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutuikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271: 1423\u20131427.","journal-title":"Science"},{"key":"470_CR38","doi-asserted-by":"publisher","first-page":"PREPRINT0011","DOI":"10.1186\/gb-2002-3-12-preprint0011","volume":"3","author":"S Subramanian","year":"2002","unstructured":"Subramanian S, Madgula VM, George R, Mishra RK, Pandit MW, Kumar CS, Singh L: MRD: a microsatellite repeats database for prokaryotic and eukaryotic genomes. Genome Biol 2002, 3: PREPRINT0011. 10.1186\/gb-2002-3-12-preprint0011","journal-title":"Genome Biol"},{"key":"470_CR39","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/S0888-7543(03)00076-4","volume":"82","author":"JR Collins","year":"2003","unstructured":"Collins JR, Stephens RM, Gold B, Long B, Dean M, Burt SK: An exhaustive DNA micro-satellite map of the human genome using high performance computing. Genomics 2003, 82: 10\u201319. 10.1016\/S0888-7543(03)00076-4","journal-title":"Genomics"},{"key":"470_CR40","doi-asserted-by":"publisher","first-page":"D35","DOI":"10.1093\/nar\/gkh073","volume":"32 Database iss","author":"DL Wheeler","year":"2004","unstructured":"Wheeler DL, Church DM, Edgar R, Federhen S, Helmberg W, Madden TL, Pontius JU, Schuler GD, Schriml LM, Sequeira E, Suzek TO, Tatusova TA, Wagner L: Database resources of the National Center for Biotechnology Information: update. Nucleic Acids Res 2004, 32 Database issue: D35\u201340. 10.1093\/nar\/gkh073","journal-title":"Nucleic Acids Res"},{"key":"470_CR41","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1093\/nar\/30.1.38","volume":"30","author":"T Hubbard","year":"2002","unstructured":"Hubbard T, Barker D, Birney E, Cameron G, Chen Y, Clark L, Cox T, Cuff J, Curwen V, Down T, Durbin R, Eyras E, Gilbert J, Hammond M, Huminiecki L, Kasprzyk A, Lehvaslaiho H, Lijnzaad P, Melsopp C, Mongin E, Pettett R, Pocock M, Potter S, Rust A, Schmidt E, Searle S, Slater G, Smith J, Spooner W, Stabenau A, Stalker J, Stupka E, Ureta-Vidal A, Vastrik I, Clamp M: The Ensembl genome database project. Nucleic Acids Res 2002, 30: 38\u201341. 10.1093\/nar\/30.1.38","journal-title":"Nucleic Acids Res"},{"key":"470_CR42","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1016\/j.crvi.2003.09.012","volume":"326","author":"O Shmueli","year":"2003","unstructured":"Shmueli O, Horn-Saban S, Chalifa-Caspi V, Shmoish M, Ophir R, Benjamin-Rodrig H, Safran M, Domany E, Lancet D: GeneNote: whole genome expression profiles in normal human tissues. C R Biol 2003, 326: 1067\u20131072.","journal-title":"C R Biol"},{"key":"470_CR43","doi-asserted-by":"publisher","first-page":"R13","DOI":"10.1186\/gb-2003-4-2-r13","volume":"4","author":"S Subramanian","year":"2003","unstructured":"Subramanian S, Mishra RK, Singh L: Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions. Genome Biol 2003, 4: R13. 10.1186\/gb-2003-4-2-r13","journal-title":"Genome Biol"},{"key":"470_CR44","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1038\/84781","volume":"27","author":"L Crisponi","year":"2001","unstructured":"Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis\/ptosis\/epicanthus inversus syndrome. Nat Genet 2001, 27: 159\u2013166. 10.1038\/84781","journal-title":"Nat Genet"},{"key":"470_CR45","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/j.ygeno.2003.09.001","volume":"83","author":"RM Clark","year":"2004","unstructured":"Clark RM, Dalgliesh GL, Endres D, Gomez M, Taylor J, Bidichandani SI: Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics 2004, 83: 373\u2013383. 10.1016\/j.ygeno.2003.09.001","journal-title":"Genomics"},{"key":"470_CR46","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/S0168-9525(97)01008-1","volume":"13","author":"Y Kashi","year":"1997","unstructured":"Kashi Y, King D, Soller M: Simple sequence repeats as a source of quantitative genetic variation. Trends Genet 1997, 13: 74\u201378. 10.1016\/S0168-9525(97)01008-1","journal-title":"Trends Genet"},{"key":"470_CR47","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/ng0592-99","volume":"1","author":"ME MacDonald","year":"1992","unstructured":"MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R, Lehrach H, Collins FS, Wasmuth JJ, Frontali M, Gusella JF: The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet 1992, 1: 99\u2013103. 10.1038\/ng0592-99","journal-title":"Nat Genet"},{"key":"470_CR48","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1002\/(SICI)1096-8628(19980907)81:5<364::AID-AJMG4>3.0.CO;2-T","volume":"81","author":"SH Shaw","year":"1998","unstructured":"Shaw SH, Kelly M, Smith AB, Shields G, Hopkins PJ, Loftus J, Laval SH, Vita A, De Hert M, Cardon LR, Crow TJ, Sherrington R, DeLisi LE: A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet 1998, 81: 364\u2013376. 10.1002\/(SICI)1096-8628(19980907)81:5<364::AID-AJMG4>3.0.CO;2-T","journal-title":"Am J Med Genet"},{"key":"470_CR49","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/ajmg.1320540108","volume":"54","author":"AE Pulver","year":"1994","unstructured":"Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D, Ott J, Lamacz M, Liang K-Y, Hanfelt J, Ullrich G, DeMarchi N, Ranu E, McHugh PR, Adler L, Thomas M: Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. Am J Med Genet 1994, 54: 36\u201343. 10.1002\/ajmg.1320540108","journal-title":"Am J Med Genet"},{"key":"470_CR50","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/ajmg.1320540111","volume":"54","author":"H Coon","year":"1994","unstructured":"Coon H, Jensen S, Holik J, Hoff M, Myles-Worsley M, Reimherr F, Wender P, Waldo M, Freedman R, Leppert M, et al.: Genomic scan for genes predisposing to schizophrenia. Am J Med Genet 1994, 54: 59\u201371. 10.1002\/ajmg.1320540111","journal-title":"Am J Med Genet"},{"key":"470_CR51","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1016\/S0140-6736(02)07604-3","volume":"359","author":"KC Murphy","year":"2002","unstructured":"Murphy KC: Schizophrenia and velo-cardio-facial syndrome. Lancet 2002, 359: 426\u2013430. 10.1016\/S0140-6736(02)07604-3","journal-title":"Lancet"},{"key":"470_CR52","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1101\/gr.361602","volume":"12","author":"JE Stajich","year":"2002","unstructured":"Stajich JE, Block D, Boulez K, Brenner SE, Chervitz SA, Dagdigian C, Fuellen G, Gilbert JG, Korf I, Lapp H, Lehvaslaiho H, Matsalla C, Mungall CJ, Osborne BI, Pocock MR, Schattner P, Senger M, Stein LD, Stupka E, Wilkinson MD, Birney E: The Bioperl toolkit: Perl modules for the life sciences. Genome Res 2002, 12: 1611\u20131618. 10.1101\/gr.361602","journal-title":"Genome Res"},{"key":"470_CR53","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1101\/gr.229202. Article published online before March 2002","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent WJ: BLAT--the BLAST-like alignment tool. Genome Res 2002, 12: 656\u2013664. 10.1101\/gr.229202. Article published online before March 2002","journal-title":"Genome Res"},{"key":"470_CR54","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, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, Szustakowki J, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ: Initial sequencing and analysis of the human genome. Nature 2001, 409: 860\u2013921. 10.1038\/35057062","journal-title":"Nature"},{"key":"470_CR55","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1107\/S0907444902003451","volume":"58","author":"HM Berman","year":"2002","unstructured":"Berman HM, Battistuz T, Bhat TN, Bluhm WF, Bourne PE, Burkhardt K, Feng Z, Gilliland GL, Iype L, Jain S, Fagan P, Marvin J, Padilla D, Ravichandran V, Schneider B, Thanki N, Weissig H, Westbrook JD, Zardecki C: The Protein Data Bank. Acta Crystallogr D Biol Crystallogr 2002, 58: 899\u2013907. 10.1107\/S0907444902003451","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"470_CR56","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/75556","volume":"25","author":"M Ashburner","year":"2000","unstructured":"Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA, Hill DP, Issel-Tarver L, Kasarskis A, Lewis S, Matese JC, Richardson JE, Ringwald M, Rubin GM, Sherlock G: Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 2000, 25: 25\u201329. 10.1038\/75556","journal-title":"Nat Genet"}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2105-6-145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T17:52:08Z","timestamp":1706809928000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/1471-2105-6-145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,10]]},"references-count":56,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2005,12]]}},"alternative-id":["470"],"URL":"https:\/\/doi.org\/10.1186\/1471-2105-6-145","relation":{},"ISSN":["1471-2105"],"issn-type":[{"value":"1471-2105","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,10]]},"assertion":[{"value":"12 January 2005","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2005","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2005","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"145"}}