medigraphic.com
ISSN 1561-2902 (Electronic)

2012, Number 1

<< Back Next >>

Revista Cubana de Educación Médica Superior 2012; 26 (1)

Bioinformatics: a gap in the formation of professionals in the health care system

Serrano BOR

Language: Spanish
References: 98
Page: 121-135
PDF size: 74.70 Kb.


ABSTRACT

Bioinformatics is a discipline which comes from the huge volume of information derived from the Human Genome Project and has radically changed the opportunities of addressing the biological processes at all their organizational levels. A number of databases and other resources are presently available on Internet; similarly, several tools allow drawing, analyzing and developing new useful pieces of knowledge for a better understanding of the health/disease process, as well as for the design and validation of new drugs and diagnostic tests. The introduction of bioinformatics in the formation of human resources within the medical sciences, a process underway in many universities of other nations in the biological profiled careers, is a requirement for the preparation of the staff to face the changes that are taking place and will take place in medicine as a result of the advances in genetics, molecular biology and other related sciences. In addition to facilitating the assimilation of contents associated to the findings that will be applied in the medical practice and that should be included in undergraduate teaching and in the specialization studies, bioinformatics may encourage the creation of multidisciplinary groups and of new models for research and development in the national healthcare of Cuba.


REFERENCES

  1. Bach R, Iwasaki Y, Friedland P. Intelligent computational assistance for experiment design. Nucleic Acids Res. 1984 Jan 11;12(1 Pt 1):11-29.

  2. Benton D. Bioinformatics-principles and potential of a new multidisciplinary tool. Trends in Biotechnology. 1996;14:261-272.

  3. Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L. New Goals for the U.S. Human Genome Project: 1998-2003. Science. 1998;282(5389):682-9.

  4. Rabe T. Why in vitro is becoming in silico. Biotech Journal International. 2001;12-4.

  5. Pevzner P, Shamir R. Computing Has Changed BiologyBiology Education Must Catch Up. Science. 2009;325:541-2.

  6. Zauhar RJ. University bioinformatics programs on the rise. Nature Biotechnology. 2001;19:285-286.

  7. Cochrane GR, Galperin MY. The 2010 Nucleic Acids Research Database Issue and online Database Collection: a community of data resources. Nucleic Acids Research. 2010;38 [Database issue]:D1D4.

  8. Altman RB. Current progress in Bioinformatics 2010. Briefings in Bioinformatics. 2010;2(1):1-2.

  9. Honts JE. Evolving Strategies for the Incorporation of Bioinformatics Within the Undergraduate Cell Biology Curriculum. Cell Biology Education. 2003;2:233-47.

  10. Campbell AM. Public Access for Teaching Genomics, Proteomics, and Bioinformatics. Cell Biology Education. 2003;2:98111.

  11. Ortutay C, Vihinen M. Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies. Nucleic Acids Research. 2008;1-7.

  12. Tiffin N, Andrade-Navarro MA, Perez-Iratxeta C. Linking genes to diseases: it's all in the data. Genome Medicine. 2009;1:77.

  13. Kann MG. Advances in translational bioinformatics: computational approaches for the hunting of disease genes. Briefings in Bioinformatics. 2010;2(1):96-110.

  14. Khan AM, Miotto O, Nascimento EJM, Srinivasan KN, Heiny AT, Zhang GL, et al. Conservation and Variability of Dengue Virus Proteins: Implications for Vaccine Design. PLoS Negl Trop Dis. 2008;2(8):e272.

  15. McMurtrey CP, Lelic A, Piazza P, Chakrabarti AK, Yablonsky EJ, Wahl A, et al. Epitope discovery in West Nile virus infection: Identification and immune recognition of viral epitopes. PNAS. 2008;105(8):2981-6.

  16. Heiny AT, Miotto O, Srinivasan KN, Khan AM, Zhang GL, Brusic V, et al. Evolutionarily Conserved Protein Sequences of Influenza A Viruses, Avian and Human, as Vaccine Targets. PLoS ONE. 2007;2(11):e1190.

  17. Chan EY, Korth MJ, Katze MG. Decoding the multifaceted HIV-1 virus-host interactome. Journal of Biology. 2009;8:84.

  18. Mishra S, Sinha S. Immunoinformatics and Modeling Perspective of T Cell Epitope-Based Cancer Immunotherapy: A Holistic Picture. Journal of Biomolecular Structure & Dynamics. 2009;27(3):293-305.

  19. McNamara LA, He Y, Yang Z. Using epitope predictions to evaluate efficacy and population coverage of the Mtb72f vaccine for tuberculosis. BMC Immunology. 2010;11:18.

  20. Wefer SH, Sheppard K. Bioinformatics in High School Biology Curricula: A Study of State Science Standards. CBELife Sciences Education. 2008;7:155-62.

  21. Pentón E, Muzio V, González M. The hepatitis B virus (HBV) infection and its prevention by a recombinant-DNA viral surface Antigen (rec-HbsAg) vaccine. Biotecnología Aplicada. 1994;11(1):1-11.

  22. Estrada MP, Hernández L, Pérez A, Rodríguez P, Serrano R, Rubiera R et al. High level expression of streptokinase in Escherichia coli. Biotechnology. 1992;10:113842.

  23. Sánchez B, Aguiar Y, Hernández DR, Garrido G, Pérez R, Enrique L. HER1 Vaccine: An autologous EGFR vaccine candidate to treat epithelial tumors. Biotecnol Apl. 2010;27(1):342-4.

  24. Marsán V, Sánchez M, Socarrás BB, del Valle LO, Macías C, Núñez A, et al. Significado biológico y clínico de la expresión de antígenos mieloides en la leucemia linfoide aguda pediátrica. Rev Cubana Hematol Inmunol Hemoter [revista en la Internet]. 2009 Dic [citado 30 Ago 2010];25(3). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892009000300007&lng=es

  25. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, Jonson GF, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptorpositive breast cancer. Nature Genetics. 2008;40(6):703-6.

  26. Iskow RC, McCabe MT, Mills RE, Torene S, Pittard WS, Neuwald AF, et al. Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons. Cell. 2010;141(7):1253-61.

  27. Xu J, Zheng SL, Isaacs SD, Wiley KE, Wiklund F, Sun J, et al. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Proc Natl Acad Sci USA. 2010;107(5):2136-40.

  28. Chen Q, Hakimi M, Wu SJ, Jin Y, Cheng BL, Wang HH, et al. Increased Genomic Copy Number of DEFA1/DEFA3 Is Associated with Susceptibility to Severe Sepsis in Chinese Han Population. Anesthesiology. 2010;112(6):1428-34.

  29. Zhang FR, Huang W, Chen SM, Sun LD, Liu H, Li Y, et al. Genomewide association study of leprosy. N Engl J Med. 2009;361(27):2609-18.

  30. Rung J, Cauchi S, Albrechtsen A, Shen L, Rocheleau G, Cavalcanti-Proença C. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nature Genetics. 2009;41:1110-5.

  31. Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nature Genetics. 2009;41:7037.

  32. Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics. 2010;42:579-89.

  33. Zhao J, Bradfield JP, Zhang H, Annaiah K, Wang K, Kim CE, et al. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes. 2010;59(3):751-5.

  34. Org E, Eyheramendy S, Juhanson P, Gieger C, Lichtner P, Klopp N, et al. Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations. Hum Mol Genet. 2009;18(12):2288-96.

  35. Jiao X, Yang Z, Yang X, Chen Y, Tong Z, Zhao C, et al. Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci USA. 2009;106(40):17105-10.

  36. Hancock DB, Romieu I, Shi M, Sienra-Monge J-J, Wu H, et al. Genome-Wide Association Study Implicates Chromosome 9q21.31 as a Susceptibility Locus for Asthma in Mexican Children. PLoS Genet. 2009;5(8):e1000623.

  37. Isordia-Salas I, Leaños-Miranda A, Sainz IM, Reyes-Maldonado E, Borrayo-Sánchez G. Asociación entre el polimorfismo 4G/5G en el gen del inhibidor del activador del plasminógeno-1 (PAI-1) y el infarto agudo de miocardio con elevación del ST en pacientes jóvenes. Rev Esp Cardiol. 2009;62:365-72.

  38. Arimura T, Bos JM, Sato A, Kubo T, Okamoto H, Nishi H, et al. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009;54(4):334-42.

  39. Drenos F, Talmud PJ, Casas JP, Smeeth L, Palmen J, Humphries SE, et al. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Hum Mol Genet. 2009;18(12):2305-16.

  40. Ikram MA, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS, et al. Genomewide association studies of stroke. N Engl J Med. 2009;360(17):1718-28.

  41. 41.Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al. Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes. PLoS Genet. 2009;5(6): e1000536.

  42. Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature. 2010;463:666-670.

  43. Atzmon G, Cho M, Cawthon RM, Budagov T, Katz M, Yang X, et al. Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians. Proc Natl Acad Sci USA. 2010;107 Suppl 1:1710-7.

  44. 44.Codd V, Mangino M, van der Harst P, Braund PS, Kaiser M, Beveridge AJ, et al. Common variants near TERC are associated with mean telomere length. Nature Genetics. 2010;42:197199.

  45. 45.Sebastiani P, Solovieff N, Puca A, Hartley SW, Melista E, Andersen S, et al. Genetic Signatures of Exceptional Longevity in Humans. Science; 2010 Jul 1.

  46. 46.Yang J, Krishnamoorthy G, Saxena A, Zhang G, Shi J, Yang H, et al. An Epilepsy/Dyskinesia-Associated Mutation Enhances BK Channel Activation by Potentiating Ca2+ Sensing. Neuron. 2010;66(6):871-83.

  47. The International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460:748-52.

  48. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nature Genetics. 2008;40(6):695-701.

  49. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008;452:872-77.

  50. Zhang W, Dolan ME. Impact of the 1000 Genomes Project on the next wave of pharmacogenomic discovery. Pharmacogenomics. 2010;11(2):24956.

  51. Check Hayden E. 10,000 genomes to come. Nature. 2009;462(7269):21.

  52. Singh A, Emery J. Pharmacogenomics. The potential of genetically guided prescribing. Aust Fam Physician. 2007 Oct;36(10):820-4.

  53. Tan GM, Wu E, Lam YY, Yan BP. Role of warfarin pharmacogenetic testing in clinical practice. Pharmacogenomics. 2010 Mar;11(3):439-48.

  54. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, et al. Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. The Pharmacogenomics Journal 2007;7:386-94.

  55. Wain LV, Armour JAL, Tobin MD. Genomic copy number variation, human health, and disease. Lancet. 2009;374:34050.

  56. Clermont G, Auffray C, Moreau Y, Rocke DM, Dalevi D, Dubhashi D et al. Bridging the gap between systems biology and medicine. Genome Medicine. 2009;1:88.

  57. Ganguly A, Leahy K, Marshall AM, Dhulipala R, Godmilow L, Ganguly T. Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations. Genet Test. 1997;1(2):85-90.

  58. Schwartz J, Pollack A. Judge Invalidates Human Gene Patent. The New York Times 2010 March 29. Disponible en: http://www.nytimes.com/2010/03/30/business/30gene.html

  59. Lin K, Baritaki S, Militello L, Malaponte G, Bevelacqua Y, Bonavida B. The Role of B-RAF Mutations in Melanoma and the Induction of EMT via Dysregulation of the NF-êB/Snail/RKIP/PTEN Circuit. Genes & Cancer. 2010;1(5):409-20.

  60. Honeyman MC, Brusic V, Harrison LC. Strategies for identifying and predicting islet autoantigen T cell epitopes in insulin-dependent diabetes mellitus. Annals of Medicine 1997;29:401-4.

  61. Pharmaceutical Research and Manufacturers of America. Medicamentos en desarrollo de Biotecnología. 2008 [consulta 24 Ago 2010]. Disponible en: http://www.phrma.org

  62. Haspel RL, Arnaout R, Briere L, Kantarci S, Marchand K, Tonellato P, et al. Training Pathology Residents in Genomics and Personalized Medicine. Am J Clin Pathol. 2010;133:832-4.

  63. Jenkins J, Calzone KA. Establishing the Essential Nursing Competencies for Genetics and Genomics. Journal of Nursing Scholarship. 2007;39(1):10-6.

  64. Conley YP, Tinkle MB. The Future of Genomic Nursing Research. Journal of Nursing Scholarship. 2007;39(1):17-24.

  65. Clancy TR, Effken JA, Pesut D. Applications of complex systems theory in nursing education, research, and practice. Nurs Outlook. 2008;56:248-256.

  66. Founds SA. Introducing Systems Biology for Nursing Science. Biol Res Nurs. 2009;11(1):73-80.

  67. Hamilton R. Nursing Advocacy in a Postgenomic Age. Nurs Clin N Am. 2009;44:435-46.

  68. Klymkowsky MW. Make Room for Computing. Science. 2009;326:227.

  69. Wingreen N, Botstein D. Back to the future: education for systems-level biologists. Molecular Cell Biology. 2006;7:829-32.

  70. Robeva R. Desegregating Undergraduate Mathematics and Biology-Interdisciplinary Instruction with Emphasis on Ongoing Biomedical Research. In: Johnson Michael L and Brand Ludwig, eds. Methods in Enzymology, Volumen 454, Computer Methods, Parte A. Academic Press; 2009. p. 305-321.

  71. Robeva R, Laubenbacher R. Mathematical Biology Education: Beyond Calculus. Science. 2009;325:542-3.

  72. Robertson M. Biologists who count. Journal of Biology. 2009;8:34. Disponible en: http://jbiol.com/content/8/4/34

  73. Steitz JA. Bio2010 - New Challenges for Biology Educators. Cell Biology Education. 2003;2:87-91.

  74. Pevzner PA. Educating biologists in the 21st century: bioinformatics scientists versus bioinformatics technicians. Bioinformatics. 2004;20(14):2159-61.

  75. Johnson SB, Friedman RA. Bridging the gap between biological and clinical informatics in a graduate training program. Journal of Biomedical Informatics. 2007;40:59-66.

  76. Yang JY, Yang MQ, Zhu M, Arabnia HR, Deng Y. Promoting synergistic research and education in genomics and bioinformatics. BMC Genomics. 2008;9(Suppl 1):I1.

  77. Tan TW, Lim SJ, Khan AM, Ranganathan S. A proposed minimum skill set for university graduates to meet the informatics needs and challenges of the "-omics" era. BMC Genomics 2009;10(Suppl 3):S36. Disponible en: http://www.biomedcentral.com/1471-2164/10/S3/S36

  78. Koch I, Fuellen G. A review of bioinformatics education in Germany. Briefings in Bioinformatics. 2008;9(3):232-42.

  79. Stein LD. Bioinformatics: alive and kicking. Genome Biology. 2008;9:114. Disponible en: http://genomebiology.com/2008/9/12/114

  80. Cañedo Andalia R. Para comprender y tratar el escaso empleo de los recursos de información disponibles vía Infomed se necesita una perspectiva multidisciplinar. Acimed. 2009 [consultado 9 sep 2010];19(1). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1024-94352009000100001&lng=es&nrm=iso

  81. Cañedo Andalia R, Arencibia Jorge R. Bioinformática: en busca de los secretos moleculares de la vida. Acimed. 2004 [consultado 30 Ago 2010];12(6). Disponible en: http://bvs.sld.cu/revistas/aci/vol12_6_04/aci02604.htm

  82. Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Wheeler DL. GenBank. Nucleic Acids Research. 2008;36 Database issue:D25D30.

  83. Goujon M, McWilliam H, Li W, Valentin F, Squizzato S, Paern J, et al. A new bioinformatics analysis tools framework at EMBL-EBI. Nucleic Acids Res. 2010 Jul 1;38 Suppl:W695-9.

  84. Flicek P, Aken BL, Ballester B, Beal K, Bragin E, Brent S, et al. Ensembl's 10th year. Nucleic Acids Research 2010;38 Database issue:D557D562.

  85. The UniProt Consortium. The Universal Protein Resource (UniProt) in 2010. Nucleic Acids Research. 2010;38 Database issue:D142D148.

  86. Kanehisa M, Goto S, Furumichi M, Tanabe M, Hirakawa M. KEGG for representation and analysis of molecular networks involving diseases and drugs. Nucleic Acids Research. 2010;38 Database issue: D355D360.

  87. Kirchmair J, Markt P, Distinto S, Schuster D, Spitzer GM, Liedl KR, et al. The Protein Data Bank (PDB), its related services and software tools as key components for in silico guided drug discovery. J Med Chem. 2008 Nov 27;51(22):7021-40.

  88. Cattley S, Arthur JW. BioManager: the use of a bioinformatics web application as a teaching tool in undergraduate bioinformatics training. Briefings in Bioinformatics. 2007;8(6):457-65.

  89. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Disponible en: http://www.ncbi.nlm.nih.gov/omim/

  90. Kuntzer J, Eggle D, Klostermann S, Burtscher H. Human variation databases. Database 2010.

  91. Savas S, Younghusband HB. dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancer. Hum Mutat. 2010 Aug;31(8):901-7.

  92. Sharma SV, Haber DA, Settleman J. Cell line-based platforms to evaluate the therapeutic efficacy of candidate anticancer agents. Nat Rev Cancer. 2010 Apr;10(4):241-53.

  93. Howe D, Costanzo M, Fey P, Gojobori T, Hannick L, Hide W, et al. The future of biocuration. Nature. 2008;455:47-50.

  94. Altman RB, Klein TE. Biomedical informatics training at Stanford in the 21st century. Journal of Biomedical Informatics. 2007;40:5558.

  95. Brazas MD, Yamada JT, Ouellette BFF. Providing web servers and training in Bioinformatics: 2010 update on the Bioinformatics Links Directory. Nucleic Acids Research 2010;38 (Web Server issue):W3W6.

  96. Thornton J. Annotations for all by all-the BioSapiens network. Genome Biology 2009, 10:401. Disponible en: http://genomebiology.com/2009/10/2/401

  97. Kane MD, Brewer JL. An information technology emphasis in biomedical informatics education. Journal of Biomedical Informatics. 2007;40:67-72.

  98. Van Mulligen EM, Cases M, Hettne K, Molero E, Weeber M, Robertson KA, et al. Training Multidisciplinary Biomedical Informatics Students: Three Years of Experience. J Am Med Inform Assoc. 2008;15:246-54.




2020     |     www.medigraphic.com