{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:12:34Z","timestamp":1791349954344,"version":"4.3.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2013,8,14]],"date-time":"2013-08-14T00:00:00Z","timestamp":1376438400000},"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":[[2014,4]]},"DOI":"10.1038\/ejhg.2013.181","type":"journal-article","created":{"date-parts":[[2013,8,14]],"date-time":"2013-08-14T11:55:36Z","timestamp":1376481336000},"page":"535-541","source":"Crossref","is-referenced-by-count":56,"title":["Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model"],"prefix":"10.1038","volume":"22","author":[{"given":"Julien","family":"Tarabeux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Zeitouni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Moncoutier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrique","family":"Tenreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadija","family":"Abidallah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Lair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Legoix-N\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Golmard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Barillot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc-Henri","family":"Stern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Rio-Frio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Stoppa-Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Houdayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,14]]},"reference":[{"key":"BFejhg2013181_CR1","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1038\/ejhg.2012.172","volume":"21","author":"ME Shanks","year":"2013","unstructured":"Shanks ME, Downes SM, Copley RR et al: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet 2013; 21: 274\u2013280.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2013181_CR2","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1038\/ejhg.2011.164","volume":"20","author":"R Artuso","year":"2012","unstructured":"Artuso R, Fallerini C, Dosa L et al: Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet 2012; 20: 50\u201357.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2013181_CR3","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1016\/j.jmoldx.2012.03.006","volume":"14","author":"H Ozcelik","year":"2012","unstructured":"Ozcelik H, Shi X, Chang MC et al: Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. J Mol Diagn 2012; 14: 467\u2013475.","journal-title":"J Mol Diagn"},{"key":"BFejhg2013181_CR4","doi-asserted-by":"publisher","first-page":"e47993","DOI":"10.1371\/journal.pone.0047993","volume":"7","author":"F Pern","year":"2012","unstructured":"Pern F, Bogdanova N, Schurmann P et al: Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. PLoS One 2012; 7: e47993.","journal-title":"PLoS One"},{"issue":"8","key":"BFejhg2013181_CR5","doi-asserted-by":"publisher","first-page":"864","DOI":"10.1038\/ejhg.2012.270","volume":"21","author":"L\u00eddia Feliubadal\u00f3","year":"2012","unstructured":"Feliubadalo L, Lopez-Doriga A, Castellsague E et al: Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet 2013; 864\u2013870.","journal-title":"European Journal of Human Genetics"},{"key":"BFejhg2013181_CR6","first-page":"1021","volume":"60","author":"D Stoppa-Lyonnet","year":"1997","unstructured":"Stoppa-Lyonnet D, Laurent-Puig P, Essioux L et al: BRCA1 sequence variations in 160 individuals referred to a breast\/ovarian family cancer clinic. Institut Curie Breast Cancer Group. Am J Hum Genet 1997; 60: 1021\u20131030.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2013181_CR7","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1002\/humu.21414","volume":"32","author":"V Caux-Moncoutier","year":"2011","unstructured":"Caux-Moncoutier V, Castera L, Tirapo C et al: EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat 2011; 32: 325\u2013334.","journal-title":"Hum Mutat"},{"key":"BFejhg2013181_CR8","doi-asserted-by":"publisher","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","author":"JP Schouten","year":"2002","unstructured":"Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G : Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30: e57.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2013181_CR9","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/nature10242","volume":"475","author":"JM Rothberg","year":"2011","unstructured":"Rothberg JM, Hinz W, Rearick TM et al: An integrated semiconductor device enabling non-optical genome sequencing. Nature 2011; 475: 348\u2013352.","journal-title":"Nature"},{"key":"BFejhg2013181_CR10","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1002\/humu.22101","volume":"33","author":"C Houdayer","year":"2012","unstructured":"Houdayer C, Caux-Moncoutier V, Krieger S et al: Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico\/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 2012; 33: 1228\u20131238.","journal-title":"Hum Mutat"},{"key":"BFejhg2013181_CR11","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1093\/bioinformatics\/btr667","volume":"28","author":"FA San Lucas","year":"2011","unstructured":"San Lucas FA, Wang G, Scheet P, Peng B : Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools. Bioinformatics 2011; 28: 421\u2013422.","journal-title":"Bioinformatics"},{"key":"BFejhg2013181_CR12","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E et al: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297\u20131303.","journal-title":"Genome Res"},{"key":"BFejhg2013181_CR13","doi-asserted-by":"publisher","first-page":"R106","DOI":"10.1186\/gb-2010-11-10-r106","volume":"11","author":"S Anders","year":"2010","unstructured":"Anders S, Huber W : Differential expression analysis for sequence count data. Genome Biol 2010; 11: R106.","journal-title":"Genome Biol"},{"key":"BFejhg2013181_CR14","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H : ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2013181_CR15","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1002\/sim.4780090710","volume":"9","author":"Y Hochberg","year":"1990","unstructured":"Hochberg Y, Benjamini Y : More powerful procedures for multiple significance testing. Stat Med 1990; 9: 811\u2013818.","journal-title":"Stat Med"},{"key":"BFejhg2013181_CR16","doi-asserted-by":"publisher","first-page":"R86","DOI":"10.1186\/gb-2010-11-8-r86","volume":"11","author":"J Goecks","year":"2010","unstructured":"Goecks J, Nekrutenko A, Taylor J : Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences. Genome Biol 2010; 11: R86.","journal-title":"Genome Biol"},{"key":"BFejhg2013181_CR17","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.jmoldx.2012.05.006","volume":"14","author":"G Michils","year":"2012","unstructured":"Michils G, Hollants S, Dehaspe L et al: Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn 2012; 14: 623\u2013630.","journal-title":"J Mol Diagn"},{"key":"BFejhg2013181_CR18","doi-asserted-by":"publisher","first-page":"2027","DOI":"10.1200\/JCO.2006.06.9443","volume":"25","author":"PM Machado","year":"2007","unstructured":"Machado PM, Brandao RD, Cavaco BM et al: Screening for a BRCA2 rearrangement in high-risk breast\/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 2007; 25: 2027\u20132034.","journal-title":"J Clin Oncol"},{"key":"BFejhg2013181_CR19","doi-asserted-by":"publisher","first-page":"65ra64","DOI":"10.1126\/scitranslmed.3001756","volume":"3","author":"CJ Bell","year":"2011","unstructured":"Bell CJ, Dinwiddie DL, Miller NA et al: Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011; 3: 65ra64.","journal-title":"Sci Transl Med"},{"key":"BFejhg2013181_CR20","doi-asserted-by":"publisher","first-page":"e25531","DOI":"10.1371\/journal.pone.0025531","volume":"6","author":"K De Leeneer","year":"2011","unstructured":"De Leeneer K, De Schrijver J, Clement L et al: Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics. PLoS One 2011; 6: e25531.","journal-title":"PLoS One"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013181.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013181","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013181.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:09:10Z","timestamp":1684429750000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2013181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,14]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["BFejhg2013181"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.181","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,14]]}}}