{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T09:52:54Z","timestamp":1717494774684},"reference-count":32,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2009,8,17]],"date-time":"2009-08-17T00:00:00Z","timestamp":1250467200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0006659","type":"journal-article","created":{"date-parts":[[2009,8,14]],"date-time":"2009-08-14T17:20:14Z","timestamp":1250270414000},"page":"e6659","update-policy":"http:\/\/dx.doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":11,"title":["Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing"],"prefix":"10.1371","volume":"4","author":[{"given":"Sergey I.","family":"Nikolaev","sequence":"first","affiliation":[]},{"given":"Christian","family":"Iseli","sequence":"additional","affiliation":[]},{"given":"Andrew J.","family":"Sharp","sequence":"additional","affiliation":[]},{"given":"Daniel","family":"Robyr","sequence":"additional","affiliation":[]},{"given":"Jacques","family":"Rougemont","sequence":"additional","affiliation":[]},{"given":"Corinne","family":"Gehrig","sequence":"additional","affiliation":[]},{"given":"Laurent","family":"Farinelli","sequence":"additional","affiliation":[]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2009,8,17]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/nature03001","article-title":"Finishing the euchromatic sequence of the human genome.","volume":"431","year":"2004","journal-title":"Nature"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome.","volume":"409","author":"ES Lander","year":"2001","journal-title":"Nature"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"e254","DOI":"10.1371\/journal.pbio.0050254","article-title":"The diploid genome sequence of an individual human.","volume":"5","author":"S Levy","year":"2007","journal-title":"PLoS Biol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature03959","article-title":"Genome sequencing in microfabricated high-density picolitre reactors.","volume":"437","author":"M Margulies","year":"2005","journal-title":"Nature"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/nature06884","article-title":"The complete genome of an individual by massively parallel DNA sequencing.","volume":"452","author":"DA Wheeler","year":"2008","journal-title":"Nature"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.gde.2006.10.009","article-title":"Whole-genome re-sequencing.","volume":"16","author":"DR Bentley","year":"2006","journal-title":"Curr Opin Genet Dev"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/nature07517","article-title":"Accurate whole human genome sequencing using reversible terminator chemistry.","volume":"456","author":"DR Bentley","year":"2008","journal-title":"Nature"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/nature07484","article-title":"The diploid genome sequence of an Asian individual.","volume":"456","author":"J Wang","year":"2008","journal-title":"Nature"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/nature07485","article-title":"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.","volume":"456","author":"TJ Ley","year":"2008","journal-title":"Nature"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1126\/science.1156409","article-title":"Genetic mapping in human disease.","volume":"322","author":"D Altshuler","year":"2008","journal-title":"Science"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1002\/humu.20749","article-title":"A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.","volume":"29","author":"S Fokstuen","year":"2008","journal-title":"Hum Mutat"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1053\/j.gastro.2006.10.034","article-title":"Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.","volume":"132","author":"C Liu","year":"2007","journal-title":"Gastroenterology"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1101\/gr.2228504","article-title":"The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection.","volume":"14","author":"A Maitra","year":"2004","journal-title":"Genome Res"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"3355","DOI":"10.1167\/iovs.05-0007","article-title":"Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.","volume":"46","author":"MN Mandal","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1097\/01.gim.0000237782.94878.05","article-title":"Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.","volume":"8","author":"RG van Eijsden","year":"2006","journal-title":"Genet Med"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/nature05610","article-title":"Patterns of somatic mutation in human cancer genomes.","volume":"446","author":"C Greenman","year":"2007","journal-title":"Nature"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/ng0407-439","article-title":"The resequencing imperative.","volume":"39","author":"EJ Topol","year":"2007","journal-title":"Nat Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1076\/1381-6810(200006)2121-8FT123","article-title":"Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).","volume":"21","author":"MM Beneyto","year":"2000","journal-title":"Ophthalmic Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/ana.20208","article-title":"A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.","volume":"56","author":"Y Dauvilliers","year":"2004","journal-title":"Ann Neurol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1086\/505539","article-title":"Genomewide association analysis of human narcolepsy and a new resistance gene.","volume":"79","author":"M Kawashima","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/nmeth1111","article-title":"Direct selection of human genomic loci by microarray hybridization.","volume":"4","author":"TJ Albert","year":"2007","journal-title":"Nat Methods"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1038\/ng.2007.42","article-title":"Genome-wide in situ exon capture for selective resequencing.","volume":"39","author":"E Hodges","year":"2007","journal-title":"Nat Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/nmeth1109","article-title":"Microarray-based genomic selection for high-throughput resequencing.","volume":"4","author":"DT Okou","year":"2007","journal-title":"Nat Methods"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/nmeth0105-63","article-title":"Direct genomic selection.","volume":"2","author":"S Bashiardes","year":"2005","journal-title":"Nat Methods"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nbt.1523","article-title":"Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.","volume":"27","author":"A Gnirke","year":"2009","journal-title":"Nat Biotechnol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"e579","DOI":"10.1371\/journal.pone.0000579","article-title":"Indexing strategies for rapid searches of short words in genome sequences.","volume":"2","author":"C Iseli","year":"2007","journal-title":"PLoS ONE"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1186\/1471-2105-9-431","article-title":"Probabilistic base calling of Solexa sequencing data.","volume":"9","author":"J Rougemont","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1089\/cmb.2006.13.1028","article-title":"A fast and symmetric DUST implementation to mask low-complexity DNA sequences.","volume":"13","author":"A Morgulis","year":"2006","journal-title":"J Comput Biol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1101\/gr.078212.108","article-title":"Mapping short DNA sequencing reads and calling variants using mapping quality scores.","volume":"18","author":"H Li","year":"2008","journal-title":"Genome Res"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/nature02168","article-title":"The International HapMap Project.","volume":"426","year":"2003","journal-title":"Nature"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/10290","article-title":"Characterization of single-nucleotide polymorphisms in coding regions of human genes.","volume":"22","author":"M Cargill","year":"1999","journal-title":"Nat Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"e1000160","DOI":"10.1371\/journal.pgen.1000160","article-title":"Genetic variation in an individual human exome.","volume":"4","author":"PC Ng","year":"2008","journal-title":"PLoS Genet"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0006659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T21:00:42Z","timestamp":1558472442000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0006659"}},"subtitle":[],"editor":[{"given":"Philip","family":"Awadalla","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2009,8,17]]},"references-count":32,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2009,8,17]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0006659","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,17]]}}}