Unlocking Mendelian disease using exome sequencing

被引：185

作者：

Gilissen, Christian ^{[1
]}

Hoischen, Alexander

Brunner, Han G.

Veltman, Joris A.

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands

来源：

GENOME BIOLOGY | 2011年 / 12卷 / 09期

关键词：

COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC-FIBROSIS GENE; DE-NOVO MUTATIONS; MENTAL-RETARDATION; NOTCH2; CAUSE; HEARING-LOSS; DNA; DISORDER; REVEALS; IDENTIFICATION;

D O I：

10.1186/gb-2011-12-9-228

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.

引用

页数：11

共 83 条

[41] Genome sequencing in microfabricated high-density picolitre reactors [J].

Margulies, M ;

Egholm, M ;

Altman, WE ;

Attiya, S ;

Bader, JS ;

Bemben, LA ;

Berka, J ;

Braverman, MS ;

Chen, YJ ;

Chen, ZT ;

Dewell, SB ;

Du, L ;

Fierro, JM ;

Gomes, XV ;

Godwin, BC ;

He, W ;

Helgesen, S ;

Ho, CH ;

Irzyk, GP ;

Jando, SC ;

Alenquer, MLI ;

Jarvie, TP ;

Jirage, KB ;

Kim, JB ;

Knight, JR ;

Lanza, JR ;

Leamon, JH ;

Lefkowitz, SM ;

Lei, M ;

Li, J ;

Lohman, KL ;

Lu, H ;

Makhijani, VB ;

McDade, KE ;

McKenna, MP ;

Myers, EW ;

Nickerson, E ;

Nobile, JR ;

Plant, R ;

Puc, BP ;

Ronan, MT ;

Roth, GT ;

Sarkis, GJ ;

Simons, JF ;

Simpson, JW ;

Srinivasan, M ;

Tartaro, KR ;

Tomasz, A ;

Vogt, KA ;

Volkmer, GA .

NATURE, 2005, 437 (7057) :376-380

[42] Genetic Heterogeneity in Human Disease [J].

McClellan, Jon ;

King, Mary-Claire .

CELL, 2010, 141 (02) :210-217

[43] Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis [J].

Mill, Pleasantine ;

Lockhart, Paul J. ;

Fitzpatrick, Elizabeth ;

Mountford, Hayley S. ;

Hall, Emma A. ;

Reijns, Martin A. M. ;

Keighren, Margaret ;

Bahlo, Melanie ;

Bromhead, Catherine J. ;

Budd, Peter ;

Aftimos, Salim ;

Delatycki, Martin B. ;

Savarirayan, Ravi ;

Jackson, Ian J. ;

Amor, David J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (04) :508-515

[44] Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia [J].

Musunuru, Kiran ;

Pirruccello, James P. ;

Do, Ron ;

Peloso, Gina M. ;

Guiducci, Candace ;

Sougnez, Carrie ;

Garimella, Kiran V. ;

Fisher, Sheila ;

Abreu, Justin ;

Barry, Andrew J. ;

Fennell, Tim ;

Banks, Eric ;

Ambrogio, Lauren ;

Cibulskis, Kristian ;

Kernytsky, Andrew ;

Gonzalez, Elena ;

Rudzicz, Nicholas ;

Engert, James C. ;

DePristo, Mark A. ;

Daly, Mark J. ;

Cohen, Jonathan C. ;

Hobbs, Helen H. ;

Altshuler, David ;

Schonfeld, Gustav ;

Gabriel, Stacey B. ;

Yue, Pin ;

Kathiresan, Sekar .

NEW ENGLAND JOURNAL OF MEDICINE, 2010, 363 (23) :2220-2227

[45] Genotype-phenotype correlations in Fanconi anemia [J].

Neveling, Kornelia ;

Endt, Daniela ;

Hoehn, Holger ;

Schindler, Detlev .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2009, 668 (1-2) :73-91

[46] Massively parallel sequencing and rare disease [J].

Ng, Sarah B. ;

Nickerson, Deborah A. ;

Bamshad, Michael J. ;

Shendure, Jay .

HUMAN MOLECULAR GENETICS, 2010, 19 :R119-R124

[47] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome [J].

Ng, Sarah B. ;

Bigham, Abigail W. ;

Buckingham, Kati J. ;

Hannibal, Mark C. ;

McMillin, Margaret J. ;

Gildersleeve, Heidi I. ;

Beck, Anita E. ;

Tabor, Holly K. ;

Cooper, Gregory M. ;

Mefford, Heather C. ;

Lee, Choli ;

Turner, Emily H. ;

Smith, Joshua D. ;

Rieder, Mark J. ;

Yoshiura, Koh-ichiro ;

Matsumoto, Naomichi ;

Ohta, Tohru ;

Niikawa, Norio ;

Nickerson, Deborah A. ;

Bamshad, Michael J. ;

Shendure, Jay .

NATURE GENETICS, 2010, 42 (09) :790-U85

[48] Exome sequencing identifies the cause of a mendelian disorder [J].

Ng, Sarah B. ;

Buckingham, Kati J. ;

Lee, Choli ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Dent, Karin M. ;

Huff, Chad D. ;

Shannon, Paul T. ;

Jabs, Ethylin Wang ;

Nickerson, Deborah A. ;

Shendure, Jay ;

Bamshad, Michael J. .

NATURE GENETICS, 2010, 42 (01) :30-U41

[49] Targeted capture and massively parallel sequencing of 12 human exomes [J].

Ng, Sarah B. ;

Turner, Emily H. ;

Robertson, Peggy D. ;

Flygare, Steven D. ;

Bigham, Abigail W. ;

Lee, Choli ;

Shaffer, Tristan ;

Wong, Michelle ;

Bhattacharjee, Arindam ;

Eichler, Evan E. ;

Bamshad, Michael ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE, 2009, 461 (7261) :272-U153

[50] Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy [J].

Nikopoulos, Konstantinos ;

Gilissen, Christian ;

Hoischen, Alexander ;

van Nouhuys, C. Erik ;

Boonstra, F. Nienke ;

Blokland, Ellen A. W. ;

Arts, Peer ;

Wieskamp, Nienke ;

Strom, Tim M. ;

Ayuso, Carmen ;

Tilanus, Mauk A. D. ;

Bouwhuis, Sanne ;

Mukhopadhyay, Arijit ;

Scheffer, Hans ;

Hoefsloot, Lies H. ;

Veltman, Joris A. ;

Cremers, Frans P. M. ;

Collin, Rob W. J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) :240-247

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