Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

被引：164

作者：

Adams, David R. ^{[1
,2
]}

Eng, Christine M. ^{[3
,4
]}

机构：

[1] NHGRI, Bethesda, MD 20892 USA

[2] NIH, Undiagnosed Dis Program, Bldg 10,Rm 10C103E,10 Ctr Dr, Bethesda, MD 20892 USA

[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[4] Baylor Genet, Houston, TX USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2018年 / 379卷 / 14期

基金：

美国国家卫生研究院;

关键词：

COST-EFFECTIVENESS; MEDICAL GENETICS; AMERICAN-COLLEGE; EXOME; RECOMMENDATIONS; VARIANTS; INTEGRATION; GUIDELINES; STANDARDS; GENOMICS;

D O I：

10.1056/NEJMra1711801

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1353 / 1362

页数：10

共 52 条

[11] Genetic Variation Among 82 Pharmacogenes: The PGRNseq Data From the eMERGE Network [J].

Bush, W. S. ;

Crosslin, D. R. ;

Owusu-Obeng, A. ;

Wallace, J. ;

Almoguera, B. ;

Basford, M. A. ;

Bielinski, S. J. ;

Carrell, D. S. ;

Connolly, J. J. ;

Crawford, D. ;

Doheny, K. F. ;

Gallego, C. J. ;

Gordon, A. S. ;

Keating, B. ;

Kirby, J. ;

Kitchner, T. ;

Manzi, S. ;

Mejia, A. R. ;

Pan, V. ;

Perry, C. L. ;

Peterson, J. F. ;

Prows, C. A. ;

Ralston, J. ;

Scott, S. A. ;

Scrol, A. ;

Smith, M. ;

Stallings, S. C. ;

Veldhuizen, T. ;

Wolf, W. ;

Volpi, S. ;

Wiley, K. ;

Li, R. ;

Manolio, T. ;

Bottinger, E. ;

Brilliant, M. H. ;

Carey, D. ;

Chisholm, R. L. ;

Chute, C. G. ;

Haines, J. L. ;

Hakonarson, H. ;

Harley, J. B. ;

Holm, I. A. ;

Kullo, I. J. ;

Jarvik, G. P. ;

Larson, E. B. ;

McCarty, C. A. ;

Williams, M. S. ;

Denny, J. C. ;

Rasmussen-Torvik, L. J. ;

Roden, D. M. .

CLINICAL PHARMACOLOGY & THERAPEUTICS, 2016, 100 (02) :160-169

[12] PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases [J].

Buske, Orion J. ;

Girdea, Marta ;

Dumitriu, Sergiu ;

Gallinger, Bailey ;

Hartley, Taila ;

Trang, Heather ;

Misyura, Andriy ;

Friedman, Tal ;

Beaulieu, Chandree ;

Bone, William P. ;

Links, Amanda E. ;

Washington, Nicole L. ;

Haendel, Melissa A. ;

Robinson, Peter N. ;

Boerkoel, Cornelius F. ;

Adams, David ;

Gahl, William A. ;

Boycott, Kym M. ;

Brudno, Michael .

HUMAN MUTATION, 2015, 36 (10) :931-940

[13] A New Initiative on Precision Medicine [J].

Collins, Francis S. ;

Varmus, Harold .

NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (09) :793-795

[14] Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing [J].

Consugar, Mark B. ;

Navarro-Gomez, Daniel ;

Place, Emily M. ;

Bujakowska, Kinga M. ;

Sousa, Maria E. ;

Fonseca-Kelly, Zoe D. ;

Taub, Daniel G. ;

Janessian, Maria ;

Wang, Dan Yi ;

Au, Elizabeth D. ;

Sims, Katherine B. ;

Sweetser, David A. ;

Fulton, Anne B. ;

Liu, Qin ;

Wiggs, Janey L. ;

Gai, Xiaowu ;

Pierce, Eric A. .

GENETICS IN MEDICINE, 2015, 17 (04) :253-261

[15]

Cyranoski D, 2016, NATURE, V529, P9, DOI 10.1038/529009a

[16] Overcoming the Reimbursement Barriers for Clinical Sequencing [J].

Deverka, Patricia A. ;

Kaufman, David ;

McGuire, Amy L. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 312 (18) :1857-1858

[17] Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders [J].

Dillon, Oliver James ;

Lunke, Sebastian ;

Stark, Zornitza ;

Yeung, Alison ;

Thorne, Natalie ;

Gaff, Clara ;

White, Susan M. ;

Tan, Tiong Yang .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (05) :644-651

[18]

Ewans L.J., 2018, GENET MED

[19] Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization [J].

Farnaes, Lauge ;

Hildreth, Amber ;

Sweeney, Nathaly M. ;

Clark, Michelle M. ;

Chowdhury, Shimul ;

Nahas, Shareef ;

Cakici, Julie A. ;

Benson, Wendy ;

Kaplan, Robert H. ;

Kronick, Richard ;

Bainbridge, Matthew N. ;

Friedman, Jennifer ;

Gold, Jeffrey J. ;

Ding, Yan ;

Veeraraghavan, Narayanan ;

Dimmock, David ;

Kingsmore, Stephen F. .

NPJ GENOMIC MEDICINE, 2018, 3

[20] Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions [J].

Farwell, Kelly D. ;

Shahmirzadi, Layla ;

El-Khechen, Dima ;

Powis, Zoee ;

Chao, Elizabeth C. ;

Davis, Brigette Tippin ;

Baxter, Ruth M. ;

Zeng, Wenqi ;

Mroske, Cameron ;

Parra, Melissa C. ;

Gandomi, Stephanie K. ;

Lu, Ira ;

Li, Xiang ;

Lu, Hong ;

Lu, Hsiao-Mei ;

Salvador, David ;

Ruble, David ;

Lao, Monica ;

Fischbach, Soren ;

Wen, Jennifer ;

Lee, Shela ;

Elliott, Aaron ;

Dunlop, Charles L. M. ;

Tang, Sha .

GENETICS IN MEDICINE, 2015, 17 (07) :578-586

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