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Genomics 3.0: Big-data in Precision Medicine

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Big Data Analytics (BDA 2015)

Part of the book series: Lecture Notes in Computer Science ((LNISA,volume 9498))

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Abstract

The Human genome project transformed biology and pharmacology into a computational, mathematical, and big-data science. In this paper we dissect the science and technology of big-data translational genomics and precision medicine - we present various components of this complex Genomics 3.0 science. We also identify diverse idiosyncrasies of big-data with respect to application of computer algorithms and mathematics in genomics. We discuss the 7Vs of big-data in biology; we discuss genomic data and its relevance with respect to formal database systems. Genomics big-data analysis is a combination of top-down, bottom-up, and middle-out approaches with all the constituent parts integrated into a single system through complex meta-analysis. Finally, we present two big-data platforms iOMICS and DiscoverX. iOMICS platform is deployed at Google cloud for translational genomics; whereas, DiscoverX is deployed at Amazon Web Services for precision medicine.

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References

  1. Sackett, D.L., Rosenberg, W.M., Gray, J., Haynes, R.B., Richardson, W.S.: Evidence based medicine: what it is and what it isn’t. Br. Med. J. (BMJ) 312(7023), 71 (1996)

    Article  Google Scholar 

  2. Di Ventura, B., Lemerle, C., Michalodimitrakis, K., Serrano, L.: From in vivo to in silico biology and back. Nature 443(7111), 527–533 (2006)

    Article  Google Scholar 

  3. Venter, J.C., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G., Smith, H.O., Yandell, M., Evans, C.A., Holt, R.A., et al.: The sequence of the human genome. Science 291(5507), 1304–1351 (2001)

    Article  Google Scholar 

  4. Karr, J.R., Sanghvi, J.C., Macklin, D.N., Gutschow, M.V., Jacobs, J.M., Bolival, B., Assad-Garcia, N., Glass, J.I., Covert, M.W.: A whole-cell computational model predicts phenotype from genotype. Cell 150(2), 389–401 (2012)

    Article  Google Scholar 

  5. Kohl, P., Noble, D.: Systems biology and the virtual physiological human. Mol. Syst. Biol. 5(1), 292 (2009)

    Google Scholar 

  6. Precision medicine initiatives. http://www.nih.gov/precisionmedicine/

  7. Collins, F.S., Hamburg, M.A.: First FDA authorization for next-generation sequencer. N. Engl. J. Med. 369(25), 2369–2371 (2013)

    Article  Google Scholar 

  8. Liu, X., Jian, X., Boerwinkle, E.: dbNSFP v2. 0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum. Mutat. 34(9), E2393–E2402 (2013)

    Article  Google Scholar 

  9. Steinhauser, M.O.: Computational Multiscale Modeling of Fluids and Solids. Springer, New York (2008)

    MATH  Google Scholar 

  10. List of biological databases. https://en.wikipedia.org/wiki/List_of_biological_databases

  11. Galperin, M.Y., Rigden, D.J., Fernández-Suárez, X.M.: The 2015 nucleic acids research database issue and molecular biology database collection. Nucleic Acids Res. 43(D1), D1–D5 (2015)

    Article  Google Scholar 

  12. Engineering statistics handbook: Exploratory data analysis. http://www.itl.nist.gov/div898/handbook/eda/eda.htm

  13. Biogrid. http://thebiogrid.org/

  14. Intact molecular interaction database. https://www.ebi.ac.uk/intact/

  15. Transfac. http://www.gene-regulation.com/pub/databases.html

  16. Reconx. http://humanmetabolism.org/

  17. Geneontology. http://geneontology.org/

  18. Kyoto encyclopedia of genes and genomes. http://www.genome.jp/kegg/

  19. Panther. http://www.pantherdb.org/pathway/

  20. David. http://david.abcc.ncifcrf.gov/

  21. Surveillance, epidemiology, and end results program. http://seer.cancer.gov/data/

  22. The sam/bam format specification working group, sequence alignment/map format specification (2015). https://samtools.github.io/hts-specs/SAMv1.pdf

  23. Integrated rule-oriented data system irods. http://irods.org/

  24. Hana. http://hana.sap.com/

  25. Li, H.: Tabix: fast retrieval of sequence features from generic tab-delimited files. Bioinformatics 27(5), 718–719 (2011)

    Article  Google Scholar 

  26. Sbml. http://sbml.org/Basic_Introduction_to_SBML

  27. Cellml. https://www.cellml.org/about

  28. Fieldml. http://physiomeproject.org/software/fieldml/about

  29. iomics. http://iomics.in

  30. Talukder, A.K., Ravishankar, S., Sasmal, K., Gandham, S., Prabhukumar, J., Achutharao, P.H., Barh, D., Blasi, F.: Xomannotate: analysis of heterogeneous and complex exome-a step towards translational medicine. PLoS ONE 10, e0123569 (2015)

    Article  Google Scholar 

  31. Gracia-Aznarez, F.J., Fernandez, V., Pita, G., Peterlongo, P., Dominguez, O., de la Hoya, M., Duran, M., Osorio, A., Moreno, L., Gonzalez-Neira, A., et al.: Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PloS one 8(2), e55681 (2013)

    Article  Google Scholar 

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Correspondence to Asoke K. Talukder .

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Talukder, A.K. (2015). Genomics 3.0: Big-data in Precision Medicine. In: Kumar, N., Bhatnagar, V. (eds) Big Data Analytics. BDA 2015. Lecture Notes in Computer Science(), vol 9498. Springer, Cham. https://doi.org/10.1007/978-3-319-27057-9_14

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  • DOI: https://doi.org/10.1007/978-3-319-27057-9_14

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-27056-2

  • Online ISBN: 978-3-319-27057-9

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