Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

作者: Murim Choi , Ute I. Scholl , Weizhen Ji , Tiewen Liu , Irina R. Tikhonova

DOI: 10.1073/PNAS.0910672106

关键词:

摘要: … genomic DNA required and by coupling to sequence platforms of modest throughput. Key … -exome capture on single arrays on the Roche/NimbleGen platform to the Illumina sequencing …

参考文章(30)
David R Bentley, Shankar Balasubramanian, Harold P Swerdlow, Geoffrey P Smith, John Milton, Clive G Brown, Kevin P Hall, Dirk J Evers, Colin L Barnes, Helen R Bignell, Jonathan M Boutell, Jason Bryant, Richard J Carter, R Keira Cheetham, Anthony J Cox, Darren J Ellis, Michael R Flatbush, Niall A Gormley, Sean J Humphray, Leslie J Irving, Mirian S Karbelashvili, Scott M Kirk, Heng Li, Xiaohai Liu, Klaus S Maisinger, Lisa J Murray, Bojan Obradovic, Tobias Ost, Michael L Parkinson, Mark R Pratt, Isabelle MJ Rasolonjatovo, Mark T Reed, Roberto Rigatti, Chiara Rodighiero, Mark T Ross, Andrea Sabot, Subramanian V Sankar, Aylwyn Scally, Gary P Schroth, Mark E Smith, Vincent P Smith, Anastassia Spiridou, Peta E Torrance, Svilen S Tzonev, Eric H Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D Alam, Carole Anastasi, Ify C Aniebo, David MD Bailey, Iain R Bancarz, Saibal Banerjee, Selena G Barbour, Primo A Baybayan, Vincent A Benoit, Kevin F Benson, Claire Bevis, Phillip J Black, Asha Boodhun, Joe S Brennan, John A Bridgham, Rob C Brown, Andrew A Brown, Dale H Buermann, Abass A Bundu, James C Burrows, Nigel P Carter, Nestor Castillo, Maria Chiara E. Catenazzi, Simon Chang, R Neil Cooley, Natasha R Crake, Olubunmi O Dada, Konstantinos D Diakoumakos, Belen Dominguez-Fernandez, David J Earnshaw, Ugonna C Egbujor, David W Elmore, Sergey S Etchin, Mark R Ewan, Milan Fedurco, Louise J Fraser, Karin V Fuentes Fajardo, W Scott Furey, David George, Kimberley J Gietzen, Colin P Goddard, George S Golda, Philip A Granieri, David E Green, David L Gustafson, Nancy F Hansen, Kevin Harnish, Christian D Haudenschild, Narinder I Heyer, Matthew M Hims, Johnny T Ho, Adrian M Horgan, Katya Hoschler, Steve Hurwitz, Denis V Ivanov, Maria Q Johnson, Terena James, TA Huw Jones, Gyoung-Dong Kang, Tzvetana H Kerelska, Alan D Kersey, Irina Khrebtukova, Alex P Kindwall, Zoya Kingsbury, Paula I Kokko-Gonzales, Anil Kumar, Marc A Laurent, Cynthia T Lawley, Sarah E Lee, Xavier Lee, Arnold K Liao, Jennifer A Loch, Mitch Lok, Shujun Luo, Radhika M Mammen, John W Martin, Patrick G McCauley, Paul McNitt, Parul Mehta, Keith W Moon, Joe W Mullens, Taksina Newington, Zemin Ning, Bee Ling Ng, Sonia M Novo, Michael J O’Neill, Mark A Osborne, Andrew Osnowski, Omead Ostadan, Lambros L Paraschos, Lea Pickering, Andrew C Pike, Alger C Pike, D Chris Pinkard, Daniel P Pliskin, Joe Podhasky, Victor J Quijano, Come Raczy, Vicki H Rae, Stephen R Rawlings, Ana Chiva Rodriguez, Phyllida M Roe, None, Accurate whole human genome sequencing using reversible terminator chemistry Nature. ,vol. 456, pp. 53- 59 ,(2008) , 10.1038/NATURE07517
Jonathan C Cohen, Robert S Kiss, Alexander Pertsemlidis, Yves L Marcel, Ruth McPherson, Helen H Hobbs, Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol Science. ,vol. 305, pp. 869- 872 ,(2004) , 10.1126/SCIENCE.1099870
Joel N. Hirschhorn, Genomewide association studies--illuminating biologic pathways. The New England Journal of Medicine. ,vol. 360, pp. 1699- 1701 ,(2009) , 10.1056/NEJMP0808934
D. W. Parsons, S. Jones, X. Zhang, J. C.-H. Lin, R. J. Leary, P. Angenendt, P. Mankoo, H. Carter, I-M. Siu, G. L. Gallia, A. Olivi, R. McLendon, B. A. Rasheed, S. Keir, T. Nikolskaya, Y. Nikolsky, D. A. Busam, H. Tekleab, L. A. Diaz, J. Hartigan, D. R. Smith, R. L. Strausberg, S. K. N. Marie, S. M. O. Shinjo, H. Yan, G. J. Riggins, D. D. Bigner, R. Karchin, N. Papadopoulos, G. Parmigiani, B. Vogelstein, V. E. Velculescu, K. W. Kinzler, An Integrated Genomic Analysis of Human Glioblastoma Multiforme Science. ,vol. 321, pp. 1807- 1812 ,(2008) , 10.1126/SCIENCE.1164382
Pia Höglund, Siru Haila, Jerzy Socha, Leszek Tomaszewski, Ulpu Saarialho-Kere, Marja-Liisa Karjalainen-Lindsberg, Kristiina Airola, Christer Holmberg, Albert de la Chapelle, Juha Kere, Mutations of the Down–regulated in adenoma ( DRA ) gene cause congenital chloride diarrhoea Nature Genetics. ,vol. 14, pp. 316- 319 ,(1996) , 10.1038/NG1196-316
Pia Höglund, Siru Haila, Karl-Henrik Gustavson, Mikko Taipale, Katariina Hannula, Kataryna Popinska, Christer Holmberg, Jerzy Socha, Albert de la Chapelle, Juha Kere, Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Human Mutation. ,vol. 11, pp. 321- 327 ,(1998) , 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A
H. Li, R. Durbin, Fast and accurate short read alignment with Burrows–Wheeler transform Bioinformatics. ,vol. 25, pp. 1754- 1760 ,(2009) , 10.1093/BIOINFORMATICS/BTP324
Brian P. Walenz, Kelvin Li, Nelson Axelrod, Dana A. Busam, Robert L. Strausberg, J. Craig Venter, Pauline C. Ng, Samuel Levy, Jiaqi Huang, Timothy B. Stockwell, Genetic Variation in an Individual Human Exome PLoS Genetics. ,vol. 4, pp. e1000160- ,(2008) , 10.1371/JOURNAL.PGEN.1000160
Sekar Kathiresan, Cristen J Willer, Gina M Peloso, Serkalem Demissie, Kiran Musunuru, Eric E Schadt, Lee Kaplan, Derrick Bennett, Yun Li, Toshiko Tanaka, Benjamin F Voight, Lori L Bonnycastle, Anne U Jackson, Gabriel Crawford, Aarti Surti, Candace Guiducci, Noel P Burtt, Sarah Parish, Robert Clarke, Diana Zelenika, Kari A Kubalanza, Mario A Morken, Laura J Scott, Heather M Stringham, Pilar Galan, Amy J Swift, Johanna Kuusisto, Richard N Bergman, Jouko Sundvall, Markku Laakso, Luigi Ferrucci, Paul Scheet, Serena Sanna, Manuela Uda, Qiong Yang, Kathryn L Lunetta, Josée Dupuis, Paul I W de Bakker, Christopher J O'Donnell, John C Chambers, Jaspal S Kooner, Serge Hercberg, Pierre Meneton, Edward G Lakatta, Angelo Scuteri, David Schlessinger, Jaakko Tuomilehto, Francis S Collins, Leif Groop, David Altshuler, Rory Collins, G Mark Lathrop, Olle Melander, Veikko Salomaa, Leena Peltonen, Marju Orho-Melander, Jose M Ordovas, Michael Boehnke, Gonçalo R Abecasis, Karen L Mohlke, L Adrienne Cupples, Common variants at 30 loci contribute to polygenic dyslipidemia. Nature Genetics. ,vol. 41, pp. 56- 65 ,(2009) , 10.1038/NG.291
H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin, , The Sequence Alignment/Map format and SAMtools Bioinformatics. ,vol. 25, pp. 2078- 2079 ,(2009) , 10.1093/BIOINFORMATICS/BTP352