A research roadmap for next-generation sequencing informatics

被引：26

作者：

Altman, Russ B. ^{[1
]}

Prabhu, Snehit ^{[2
]}

Sidow, Arend ^{[3
]}

Zook, Justin M. ^{[4
,11
]}

Goldfeder, Rachel ^{[5
]}

Litwack, David ^{[6
]}

Ashley, Euan ^{[7
]}

Asimenos, George ^{[8
]}

Bustamante, Carlos D. ^{[2
]}

Donigan, Katherine ^{[6
]}

Giacomini, Kathleen M. ^{[9
]}

Johansen, Elaine ^{[6
]}

Khuri, Natalia ^{[10
]}

Lee, Eunice ^{[6
]}

Liang, Xueying Sharon ^{[6
]}

Salit, Marc ^{[4
,10
,11
]}

Serang, Omar ^{[8
]}

Tezak, Zivana ^{[6
]}

Wall, Dennis P. ^{[12
]}

Mansfield, Elizabeth ^{[6
]}

Kass-Hout, Taha ^{[6
]}

机构：

[1] Stanford Univ, Bioengn Genet & Med, Stanford, CA 94305 USA

[2] Stanford Univ, Biomed Data Sci & Genet, Stanford, CA 94305 USA

[3] Stanford Univ, Pathol & Genet, Stanford, CA 94305 USA

[4] NIST, Mat Measurement Lab, Gaithersburg, MD 20899 USA

[5] Stanford Univ, Biomed Informat, Stanford, CA 94305 USA

[6] US FDA, Silver Spring, MD 20993 USA

[7] Stanford Univ, Med Genet & Pathol, Stanford, CA 94305 USA

[8] DNAnexus, Mountain View, CA 94040 USA

[9] Univ Calif San Francisco, Bioengn & Therapeut Sci, San Francisco, CA 94143 USA

[10] Stanford Univ, Bioengn, Stanford, CA 94305 USA

[11] Stanford Univ, NIST, Mat Measurement Lab, Stanford, CA 94305 USA

[12] Stanford Univ, Syst Med & Psychiat, Stanford, CA 94305 USA

来源：

SCIENCE TRANSLATIONAL MEDICINE | 2016年 / 8卷 / 335期

关键词：

D O I：

10.1126/scitranslmed.aaf7314

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Next-generation sequencing technologies are fueling a wave of new diagnostic tests. Progress on a key set of nine research challenge areas will help generate the knowledge required to advance effectively these diagnostics to the clinic.

引用

页数：4

共 2 条

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[2] Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls [J].

Zook, Justin M. ;

Chapman, Brad ;

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Mittelman, David ;

Hofmann, Oliver ;

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Salit, Marc .

NATURE BIOTECHNOLOGY, 2014, 32 (03) :246-251

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