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English Information

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Authors
# Name
1 Manuela C. P. Bonetto(manuela.bonetto@hc.fm.usp.br)
2 Ed Carlos S. Silva(ed.silva@hc.fm.usp.br)
3 Juliana José(juliana.jose@hc.fm.usp.br)
4 Rogério S. Rosa(rogerio.rosa@hc.fm.usp.br)
5 José S. L. Patané(jose.patane@hc.fm.usp.br)

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Reference
# Reference
1 Kohler, S., Gargano, M., Matentzoglu, N., Carmody, L. C., Lewis-Smith, D., Vasilevsky, N. A., Danis, D., Balagura, G., Baynam, G., Brower, A. M., et al. (2021). The human phenotype ontology in 2021. Nucleic acids research, 49(D1):D1207–D1217.
2 Li, Q., Zhao, K., Bustamante, C. D., Ma, X., and Wong, W. H. (2019). Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis. Genetics in Medicine, 21(9):2126–2134.
3 Robinson, P. N., Kohler, S., Oellrich, A., Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., Krawitz, P., et al. (2014). Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome research, 24(2):340–348.
4 Robinson, P. N., Ravanmehr, V., Jacobsen, J. O., Danis, D., Zhang, X. A., Carmody, L. C., Gargano, M. A., Thaxton, C. L., Karlebach, G., Reese, J., et al. (2020). Interpretable clinical genomics with a likelihood ratio paradigm. The American Journal of Human Genetics, 107(3):403–417.
5 Smedley, D., Jacobsen, J. O., Jager, M., K ̈ ohler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015). Next-generation diagnostics and disease-gene discovery with the exomiser. Nature protocols, 10(12):2004–2015.