A research roadmap for next-generation sequencing informatics

Science Translational Medicine

Volumn 8, Issue 335, 2016, Pages

  Altman, Russ B ^a   Prabhu, Snehit ^b   Sidow, Arend ^b   Zook, Justin M ^b,c   Goldfeder, Rachel ^d   Litwack, David ^e   Ashley, Euan ^d   Asimenos, George ^f   Bustamante, Carlos D ^b   Donigan, Katherine ^e   Giacomini, Kathleen M ^g   Johansen, Elaine ^e   Khuri, Natalia ^a   Lee, Eunice ^e   Liang, Xueying Sharon ^e   Salit, Marc ^b,c,e   Serang, Omar ^f   Tezak, Zivana ^e   Wall, Dennis P ^b   Mansfield, Elizabeth ^e   Kass Hout, Taha ^e   more..

^a Stanford University   (United States)

^b STANFORD UNIVERSITY   (United States)

^c NATIONAL INSTITUTE OF STANDARDS AND TECHNOLOGY   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^f DNAnexus   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTICAL ERROR; DIAGNOSTIC TEST; DNA EXTRACTION; DNA SEQUENCE; EMPOWERMENT; FOOD AND DRUG ADMINISTRATION; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC VARIABILITY; HUMAN; MEDICAL INFORMATICS; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PERSONALIZED MEDICINE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; GENETICS; HIGH THROUGHPUT SEQUENCING; INFORMATION SCIENCE; PROCEDURES;

HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; INFORMATICS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECISION MEDICINE;

EID: 84964556719     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aaf7314     Document Type: Review

References (3)

1. PMI, https://www.whitehouse.gov/precision-medicine.
2. J. M. Zook, B. Chapman, J. Wang, D. Mittelman, O. Hofmann, W. Hide, M. Salit, Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat. Biotechnol. 32, 246-251 (2014).
3. W. Huang, L. Li, J. R. Myers, G. T. Marth, ART: A next-generation sequencing read simulator. Bioinformatics 28, 593-594 (2012). 10.1126/scitranslmed.aaf7314