Genomic Technologies and the New Era of Genomic Medicine

被引:10
作者
Ankala, Arunkanth [1 ]
Hegde, Madhuri [1 ]
机构
[1] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
关键词
MUTATIONS; CANCER; DIAGNOSTICS;
D O I
10.1016/j.jmoldx.2013.11.001
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:7 / 10
页数:4
相关论文
共 15 条
[1]   Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology [J].
Cottrell, Catherine E. ;
Al-Kateb, Hussam ;
Bredemeyer, Andrew J. ;
Duncavage, Eric J. ;
Spencer, David H. ;
Abel, Haley J. ;
Lockwood, Christina M. ;
Hagemann, Ian S. ;
O'Guin, Stephanie M. ;
Burcea, Lauren C. ;
Sawyer, Christopher S. ;
Oschwald, Dayna M. ;
Stratman, Jennifer L. ;
Sher, Done A. ;
Johnson, Mark R. ;
Brown, Justin T. ;
Cliften, Paul F. ;
George, Bijoy ;
McIntosh, Leslie D. ;
Shrivastava, Savita ;
Nguyen, TuDung T. ;
Payton, Jacqueline E. ;
Watson, Mark A. ;
Crosby, Seth D. ;
Head, Richard D. ;
Mitra, Robi D. ;
Nagarajan, Rakesh ;
Kulkarni, Shashikant ;
Seibert, Karen ;
Virgin, Herbert W. ;
Milbrandt, Jeffrey ;
Pfeifer, John D. .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (01) :89-105
[2]   Assuring the quality of next-generation sequencing in clinical laboratory practice [J].
Gargis, Amy S. ;
Kalman, Lisa ;
Berry, Meredith W. ;
Bick, David P. ;
Dimmock, David P. ;
Hambuch, Tina ;
Lu, Fei ;
Lyon, Elaine ;
Voelkerding, Karl V. ;
Zehnbauer, Barbara A. ;
Agarwala, Richa ;
Bennett, Sarah F. ;
Chen, Bin ;
Chin, Ephrem L. H. ;
Compton, John G. ;
Das, Soma ;
Farkas, Daniel H. ;
Ferber, Matthew J. ;
Funke, Birgit H. ;
Furtado, Manohar R. ;
Ganova-Raeva, Lilia M. ;
Geigenmueller, Ute ;
Gunselman, Sandra J. ;
Hegde, Madhuri R. ;
Johnson, Philip L. F. ;
Kasarskis, Andrew ;
Kulkarni, Shashikant ;
Lenk, Thomas ;
Liu, C. S. Jonathan ;
Manion, Megan ;
Manolio, Teri A. ;
Mardis, Elaine R. ;
Merker, Jason D. ;
Rajeevan, Mangalathu S. ;
Reese, Martin G. ;
Rehm, Heidi L. ;
Simen, Birgitte B. ;
Yeakley, Joanne M. ;
Zook, Justin M. ;
Lubin, Ira M. .
NATURE BIOTECHNOLOGY, 2012, 30 (11) :1033-1036
[3]   Patterns of somatic mutation in human cancer genomes [J].
Greenman, Christopher ;
Stephens, Philip ;
Smith, Raffaella ;
Dalgliesh, Gillian L. ;
Hunter, Christopher ;
Bignell, Graham ;
Davies, Helen ;
Teague, Jon ;
Butler, Adam ;
Edkins, Sarah ;
O'Meara, Sarah ;
Vastrik, Imre ;
Schmidt, Esther E. ;
Avis, Tim ;
Barthorpe, Syd ;
Bhamra, Gurpreet ;
Buck, Gemma ;
Choudhury, Bhudipa ;
Clements, Jody ;
Cole, Jennifer ;
Dicks, Ed ;
Forbes, Simon ;
Gray, Kris ;
Halliday, Kelly ;
Harrison, Rachel ;
Hills, Katy ;
Hinton, Jon ;
Jenkinson, Andy ;
Jones, David ;
Menzies, Andy ;
Mironenko, Tatiana ;
Perry, Janet ;
Raine, Keiran ;
Richardson, Dave ;
Shepherd, Rebecca ;
Small, Alexandra ;
Tofts, Calli ;
Varian, Jennifer ;
Webb, Tony ;
West, Sofie ;
Widaa, Sara ;
Yates, Andy ;
Cahill, Daniel P. ;
Louis, David N. ;
Goldstraw, Peter ;
Nicholson, Andrew G. ;
Brasseur, Francis ;
Looijenga, Leendert ;
Weber, Barbara L. ;
Chiew, Yoke-Eng .
NATURE, 2007, 446 (7132) :153-158
[4]   The hallmarks of cancer [J].
Hanahan, D ;
Weinberg, RA .
CELL, 2000, 100 (01) :57-70
[5]   Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing [J].
Harismendy, Olivier ;
Schwab, Richard B. ;
Bao, Lei ;
Olson, Jeff ;
Rozenzhak, Sophie ;
Kotsopoulos, Steve K. ;
Pond, Stephanie ;
Crain, Brian ;
Chee, Mark S. ;
Messer, Karen ;
Link, Darren R. ;
Frazer, Kelly A. .
GENOME BIOLOGY, 2011, 12 (12)
[6]   Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing [J].
Jones, Melanie A. ;
Rhodenizer, Devin ;
da Silva, Cristina ;
Huff, Israel J. ;
Keong, Lisa ;
Bean, Lora J. H. ;
Coffee, Bradford ;
Collins, Christin ;
Tanner, Alice K. ;
He, Miao ;
Hegde, Madhuri R. .
MOLECULAR GENETICS AND METABOLISM, 2013, 110 (1-2) :78-85
[7]   K-ras mutations and benefit from cetuximab in advanced colorectal cancer [J].
Karapetis, Christos S. ;
Khambata-Ford, Shirin ;
Jonker, Derek J. ;
O'Callaghan, Chris J. ;
Tu, Dongsheng ;
Tebbutt, Niall C. ;
Simes, R. John ;
Chalchal, Haji ;
Shapiro, Jeremy D. ;
Robitaille, Sonia ;
Price, Timothy J. ;
Shepherd, Lois ;
Au, Heather-Jane ;
Langer, Christiane ;
Moore, Malcolm J. ;
Zalcberg, John R. .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 359 (17) :1757-1765
[8]   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
[9]   Short Read (Next-Generation) Sequencing: A Tutorial With Cardiomyopathy Diagnostics as an Exemplar [J].
Punetha, Jaya ;
Hoffman, Eric P. .
CIRCULATION-CARDIOVASCULAR GENETICS, 2013, 6 (04) :427-434
[10]   Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics [J].
Sikkema-Raddatz, Birgit ;
Johansson, Lennart F. ;
de Boer, Eddy N. ;
Almomani, Rowida ;
Boven, Ludolf G. ;
van den Berg, Maarten P. ;
van Spaendonck-Zwarts, Karin Y. ;
van Tintelen, J. Peter ;
Sijmons, Rolf H. ;
Jongbloed, Jan D. H. ;
Sinke, Richard J. .
HUMAN MUTATION, 2013, 34 (07) :1035-1042