Sci Transl Med. 2016 Apr 20;8(335):335ps10. doi: 10.1126/scitranslmed.aaf7314.

A research roadmap for next-generation sequencing informatics.

Altman RB¹, Prabhu S², Sidow A³, Zook JM⁴, Goldfeder R⁵, Litwack D⁶, Ashley E⁷, Asimenos G⁸, Bustamante CD², Donigan K⁶, Giacomini KM⁹, Johansen E⁶, Khuri N¹⁰, Lee E⁶, Liang XS⁶, Salit M¹¹, Serang O⁸, Tezak Z⁶, Wall DP¹², Mansfield E⁶, Kass-Hout T⁶.

Author information

1: Bioengineering, Genetics, and Medicine, Stanford University, Stanford, CA 94305, USA. russ.altman@stanford.edu.
2: Biomedical Data Science and Genetics, Stanford University, Stanford, CA 94305, USA.
3: Pathology and Genetics, Stanford University, Stanford, CA 94305, USA.
4: Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA. Material Measurement Laboratory, National Institute of Standards and Technology, Stanford University, Stanford, CA 94305, USA.
5: Biomedical Informatics, Stanford University, Stanford, CA 94305, USA.
6: Food and Drug Administration, Silver Spring, MD 20993, USA.
7: Medicine, Genetics, and Pathology, Stanford University, Stanford, CA 94305, USA.
8: DNAnexus, Mountain View, CA 94040, USA.
9: Bioengineering and Therapeutic Sciences, University of California at San Francisco, San Francisco, CA 94143, USA.
10: Bioengineering, Stanford University, Stanford, CA 94305, USA.
11: Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA. Bioengineering, Stanford University, Stanford, CA 94305, USA. Material Measurement Laboratory, National Institute of Standards and Technology, Stanford University, Stanford, CA 94305, USA.
12: Systems Medicine and Psychiatry, Stanford University, Stanford, CA 94305, USA.

Abstract

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.