The Ultimate Genetic Test

被引：24

作者：

Drmanac, Radoje ^{[1
]}

机构：

[1] Complete Genom Inc, Mountain View, CA 94043 USA

来源：

SCIENCE | 2012年 / 336卷 / 6085期

关键词：

GENOME; MUTATIONS; PATIENT;

D O I：

10.1126/science.1221037

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Individual whole-genome sequencing has the potential to greatly improve disease prevention, diagnosis, and treatment.

引用

页码：1110 / 1112

页数：3

共 27 条

[21] De novo mutations revealed by whole-exome sequencing are strongly associated with autism [J].

Sanders, Stephan J. ;

Murtha, Michael T. ;

Gupta, Abha R. ;

Murdoch, John D. ;

Raubeson, Melanie J. ;

Willsey, A. Jeremy ;

Ercan-Sencicek, A. Gulhan ;

DiLullo, Nicholas M. ;

Parikshak, Neelroop N. ;

Stein, Jason L. ;

Walker, Michael F. ;

Ober, Gordon T. ;

Teran, Nicole A. ;

Song, Youeun ;

El-Fishawy, Paul ;

Murtha, Ryan C. ;

Choi, Murim ;

Overton, John D. ;

Bjornson, Robert D. ;

Carriero, Nicholas J. ;

Meyer, Kyle A. ;

Bilguvar, Kaya ;

Mane, Shrikant M. ;

Sestan, Nenad ;

Lifton, Richard P. ;

Guenel, Murat ;

Roeder, Kathryn ;

Geschwind, Daniel H. ;

Devlin, Bernie ;

State, Matthew W. .

NATURE, 2012, 485 (7397) :237-U124

[22] Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease [J].

Smemo, Scott ;

Campos, Luciene C. ;

Moskowitz, Ivan P. ;

Krieger, Jose E. ;

Pereira, Alexandre C. ;

Nobrega, Marcelo A. .

HUMAN MOLECULAR GENETICS, 2012, 21 (14) :3255-3263

[23] Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis [J].

Strom, Charles M. ;

Crossley, Beryl ;

Buller-Buerkle, Arlene ;

Jarvis, Michael ;

Quan, Franklin ;

Peng, Mei ;

Muralidharan, Kasinathan ;

Pratt, Victoria ;

Redman, Joy B. ;

Sun, Weimin .

GENETICS IN MEDICINE, 2011, 13 (02) :166-172

[24] The importance of phase information for human genomics [J].

Tewhey, Ryan ;

Bansal, Vikas ;

Torkamani, Ali ;

Topol, Eric J. ;

Schork, Nicholas J. .

NATURE REVIEWS GENETICS, 2011, 12 (03) :215-223

[25] A de novo paradigm for mental retardation [J].

Vissers, Lisenka E. L. M. ;

de Ligt, Joep ;

Gilissen, Christian ;

Janssen, Irene ;

Steehouwer, Marloes ;

de Vries, Petra ;

van Lier, Bart ;

Arts, Peer ;

Wieskamp, Nienke ;

del Rosario, Marisol ;

van Bon, Bregje W. M. ;

Hoischen, Alexander ;

de Vries, Bert B. A. ;

Brunner, Han G. ;

Veltman, Joris A. .

NATURE GENETICS, 2010, 42 (12) :1109-+

[26] Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing [J].

Walsh, Tom ;

Lee, Ming K. ;

Casadei, Silvia ;

Thornton, Anne M. ;

Stray, Sunday M. ;

Pennil, Christopher ;

Nord, Alex S. ;

Mandell, Jessica B. ;

Swisher, Elizabeth M. ;

King, Mary-Claire .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (28) :12629-12633

[27] Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene [J].

Welch, John S. ;

Westervelt, Peter ;

Ding, Li ;

Larson, David E. ;

Klco, Jeffery M. ;

Kulkarni, Shashikant ;

Wallis, John ;

Chen, Ken ;

Payton, Jacqueline E. ;

Fulton, Robert S. ;

Veizer, Joelle ;

Schmidt, Heather ;

Vickery, Tammi L. ;

Heath, Sharon ;

Watson, Mark A. ;

Tomasson, Michael H. ;

Link, Daniel C. ;

Graubert, Timothy A. ;

DiPersio, John F. ;

Mardis, Elaine R. ;

Ley, Timothy J. ;

Wilson, Richard K. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2011, 305 (15) :1577-1584

← 1 2 3 →