第1章

参考文献:第1章 深度测序技术与生物信息学



白晋伟, 沈百荣. 2017. 健康管理与深度测序数据解析的挑战. 中华医学图书情报杂志. 投稿中.

Abbasi, J. 2017. 23andMe, Big Data, and the Genetics of Depression. Jama. 317(1): 14-16. [PubMed]

Bhattacharya, S., et al. 2014. ImmPort: disseminating data to the public for the future of immunology. Immunol Res. 58(2-3): 234-239. [PubMed]

Chute, C. G., et al. 2010. The Enterprise Data Trust at Mayo Clinic: a semantically integrated warehouse of biomedical data. J Am Med Inform Assoc. 17(2): 131-135. [PubMed]

Cimino, J. J., et al. 2014. The National Institutes of Health's Biomedical Translational Research Information System (BTRIS): design, contents, functionality and experience to date. J Biomed Inform. 52: 11-27. [PubMed]

Claes, P., et al. 2014. Modeling 3D facial shape from DNA. PLoS Genet. 10(3): e1004224. [PubMed]

Clark, K., Vendt, B,, Smith, K,, et al. 2013. The cancer imaging archive(TCIA): maintaining andoperating a public information repository. J Digit Imaging, 26(6): 1045-1057. [PubMed]

Erlich, Y. 2015. A vision for ubiquitous sequencing. Genome Res. 25(10): 1411-1416. [PubMed]

Huang, Z., et al. 2016. A privacy-preserving solution for compressed storage and selective retrieval of genomic data. 26(12): 1687-1696. [PubMed]

Hyde, C.L., et al. 2016. Identification of 15 genetic loci associated with risk of major depression in individuals of European descent. 48(9): 1031-1036. [PubMed]

Lowe, H. J., et al. 2009. STRIDE--An integrated standards-based translational research informatics platform. AMIA Annu Symp Proc. 2009: 391-395. [PubMed]

Mardis, E. R. 2006. Anticipating the 1,000 dollar genome. Genome Biol. 7(7): 112. [PubMed]

Murphy, S. N., et al. 2010. Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2). J Am Med Inform Assoc. 17(2): 124-130. [PubMed]

Payakachat, N., et al. 2016. National Database for Autism Research (NDAR): Big Data Opportunities for Health Services Research and Health Technology Assessment. Pharmacoeconomics. 34(2): 127-138. [PubMed]

Stevens, H. 2012. Dr. Sanger, meet Mr. Moore: next-generation sequencing is driving new questions and new modes of research. Bioessays. 34(2): 103-105. [PubMed]

Stoekle, H. C., et al. 2016. 23andMe: a new two-sided data-banking market model. BMC Med Ethics. 17: 19. [PubMed]

Tomczak, K., et al. 2015. The Cancer Genome Atlas (TCGA): an immeasurable source of knowledge. Contemp Oncol (Pozn). 19(1a): A68-77. [PubMed]

Tryka, K. A., et al. 2014. NCBI's Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res. 42(Database issue): D975-979. [PubMed]

Vayena, E. and U. Gasser. 2016. Between Openness and Privacy in Genomics. PLoS Med. 13(1): e1001937. [PubMed]

Wang, S., et al. 2017. Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States. Ann N Y Acad Sci. 1387(1): 73-83. [PubMed]

Wang, X., et al. 2009. Translational integrity and continuity: personalized biomedical data integration. J Biomed Inform. 42(1): 100-112. [PubMed]

Wilkinson, M. D. and M. Dumontier. 2016. The FAIR Guiding Principles for scientific data management and stewardship. 3: 160018. [PubMed]