References
- AHNERT, S., FINK, T., AND ZINOVYEV, A. 2008. How much non-coding DNA do eukaryotes require? Journal of Theoretical Biology 252, 4, 587-592. https://doi.org/10.1016/j.jtbi.2008.02.005
- ALBERTS, B., BRAY, D., HOPKIN, K., JOHNSON, A., LEWIS, J., RAFF, M., ROBERTS, K., AND WALTER, P. 2003. Essential Cell Biology, 2nd ed. Garland Science USA.
- AMBERGER, J., BOCCHINI, C., SCOTT, A., AND HAMOSH, A. 2008. McKusick's Online Mendelian Inheritance in Man (OMIM (R)). Nucleic Acids Research.
- ASHBURNER, M., BALL, C., AND BLAKE, J. 2000. Gene ontology: tool for the unification of biology. Nature genetics 25, 1, 25-30. https://doi.org/10.1038/75556
- BAMFORD, S., DAWSON, E., FORBES, S., CLEMENTS, J., PETTETT, R., DOGAN, A., FLANAGAN, A., TEAGUE, J., FUTREAL, P., STRATTON, M., ET AL. 2004. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. British journal of cancer 91, 2, 355-358. https://doi.org/10.1038/sj.bjc.6601894
- EVERMANN, J. AND WAND, Y. 2004. Ontology bases object-oriented domain modeling: Fundamental concepts. Requirements Engineering 10, 2, 146-160.
- EYRE, T., DUCLUZEAU, F., SNEDDON, T., POVEY, S., BRUFORD, E., AND LUSH, M. 2006. The HUGO gene nomenclature database, 2006 updates. Nucleic Acids Research 34, suppl 1, D319. https://doi.org/10.1093/nar/gkj147
- FOKKEMA, I., DEN DUNNEN, J., AND TASCHNER, P. 2005. LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Human mutation 26, 2, 63-68. https://doi.org/10.1002/humu.20201
- HAMOSH, A., SCOTT, A., AMBERGER, J., VALLE, D., AND MCKUSICK, V. 2000. Online Mendelian Inheritance in Man (OMIM) Hum. Mutat 15, 57-61. https://doi.org/10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G
- HAPMAP, C. 2003. The International HapMap Project. Nature 426, 6968, 789-796. https://doi.org/10.1038/nature02168
- KENT, W. 2002. Blat the blast like alignment tool. Genome Research 12, 656-664.
- KHOO, U., NGAN, H., CHEUNG, A., CHAN, K., LU, J., CHAN, V., LAU, S., ANDRULIS, I., AND OZCELIK, H. 2000. Mutational analysis of brca1 and brca2 genes in chinese ovarian cancer identifies 6 novel germline mutations. Human Mutation 16, 1, 88-89.
- LANGSTON, A., STANFORD, J., WICKLUND, K., THOMPSON, J., BLAZEJ, R., AND OSTRANDER, E. 1996. Germ-line brca1 mutations in selected men with prostate cancer. American Journal of Human Genetics 58, 881-885.
- MATTICK, J. 2003. Challenging the dogma: the hidden layer of non-protein-coding RNAs in complex organisms. Bioessays 25, 10, 930-939. https://doi.org/10.1002/bies.10332
- MATTICK, J. 2004. RNA regulation: a new genetics? Nature Reviews Genetics 5, 4, 316-323. https://doi.org/10.1038/nrg1321
- MIKI, Y. ET AL. 1994. Brca1 mutations in primary breast and ovarian carcinomas. Science 266, 5182, 120-122. https://doi.org/10.1126/science.7939630
- OKAYAMA, T., TAMURA, T., GOJOBORI, T., TATENO, Y., IKEO, K., MIYAZAKI, S., FUKAMI-KOBAYASHI, K., AND SUGAWARA, H. 1998. Formal design and implementation of an improved ddbj dna database with a new schema and object-oriented library. Bioinformatics 14, 6, 472. https://doi.org/10.1093/bioinformatics/14.6.472
- PANGULURI, R., DUNSTON, G., BRODY, L., MODALI, R., UTLEY, K., ADAMSCAMPBELL, L., DAY, A., AND WHITFIELD-BROOME, C. 1999. Brca1 mutations in african americans. Human Genetics 105, 1-2, 28-31. https://doi.org/10.1007/s004399900085
- PASTOR, O. 2008. Conceptual modeling meets the human genome. Conceptual modeling-ER 2008 5231, 1-11.
- PASTOR, O., CASAMAYOR, J., CELMA, M., PASTOR, M., MOTA, L., AND LEVIN, A. 2010. The conceptual schema of the human genoma: Looking at bioinformatics from an information systems perspective. Tech. Rep. TECPROS-12-01, PROS Research Center, Camino de Vera S/N, 46022, Valencia, Valencia, Spain. Sept.
- PASTOR, O., LEVIN, A., CASAMAYOR, J., CELMA, M., VIRRUETA, A., AND ERASO, L. 2010. Model driven-based engineering applied to the interpretation of the human genome, 1st ed. Lecture Notes in Computer Science, vol. 6520. Springer-Verlag, Chapter 10.
- PASTOR, O., LEVIN, A., CELMA, M., CASAMAYOR, J., SCHATTKA, L. E., VILLANUEVA, M., AND PEREZALONSO, M. 2010. Enforcing conceptual modeling to improve the understanding of human genome. In Research Challenges in Information Science (RCIS), 2010 Fourth International Conference on. IEEE Press, 85-92.
- PASTOR, O. AND MOLINA, J. 2007. Model-driven architecture in practice: a software production environment based on conceptual modeling. Springer-Verlag. Berlin-Heidelberg.
- PASTOR, O., PASTOR, M., AND BURRIEL, V. 2010. Conceptual modeling of human genome mutations: a dichotomy between what we have and what we should have. In Proceedings of Bioinformatics 2010. BIOSTEC Bioinformatics, 160-166.
- PATON, W., KHAN, S., HAYES, A., MOUSSOUNI, F., BRASS, A., EILBECK, K., GLOBE, C., HUBBARD, C., AND OLIVER, S. 2000. Proceedings of the IVth Int. Conference on Research Challenges in Information Science. Vol. 6. Bioinformatics, Chapter Conceptual Modeling of Genomic Information, 548-557.
- PERTSEMLIDIS, A. AND FONDON, J. 2001. Having a blast with bioinformatics (and avoiding blastphemy). Genome Biology 2, 10, 1-10.
- PRUITT, K., TATUSOVA, T., AND MAGLOTT, D. 2006. NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic acids research.
- SHATTUCK-EIDENS, D. ET AL. 2009. Brca1 sequence analysis in women at high risk for susceptibility mutations. The Journal of the American Medical Association 278, 15, 1242-1250.
- SHERRY, S., WARD, M., KHOLODOV, M., BAKER, J., PHAN, L., SMIGIELSKI, E., AND SIROTKIN, K. 2001. dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 29, 1, 308. https://doi.org/10.1093/nar/29.1.308
- SMITH, B., WILLIAMS, J., AND SCHULZE-KREMER, S. 2003. The ontology of the gene ontology. American Medical Informatics Association Annual Symposium Proceedings, 609-613.
- STEIN, L. 2002. Creating a bioinformatics nation. Nature 417, 6885, 119-121. https://doi.org/10.1038/417119a
- STENSON, P., BALL, E., MORT, M., PHILLIPS, A., SHIEL, J., THOMAS, N., ABEYSINGHE, S., KRAWCZAK, M., AND COOPER, D. 2003. The human gene mutation database (hgmd): 2003 update. Human Mutation 21, 6, 577-581. https://doi.org/10.1002/humu.10212
- VAN DER HOUT, A. ET AL. 2006. A dgge system for comprehensive mutation screening of brca1 and brca2: application in a dutch cancer clinic. Human Mutation 27, 7, 654-666. https://doi.org/10.1002/humu.20340
- VAN DER KROON, M., RAMIREZ, I. L., LEVIN, A., PASTOR, O., AND BRINKKEMPER, S. 2009. Mutational data loading routines for human genome databases: the brca1 case. Report UU-CS-2009-020, Department of Information and Computing Sciences, Utrecht University.
- ZHAO, Z., FU, Y., HEWET-EMMETT, D., AND BOERWINKLE, E. 2003. Investigating single nucleotide polymorphism (snp) density in the human genome and its implications for molecular evolution. Gene 312, 207-213. https://doi.org/10.1016/S0378-1119(03)00670-X