Genomic Study of Hereditary Disease

More than 1700 genes are known to be involved in mendelian diseases when they have mutations. The computational study of this group of genes has allowed us to reveal some molecular properties that make them more likely to cause a disease. These properties, in addition to help us understand better the molecular mechanism of disease mutations, can be used for prediction of disease genes.

Resources

iDGP. Database of human genes prioritized for their probability of involvement in dominant or recessive hereditary diseases.

Publications

Lopez-Bigas N, Blencowe BJ, Ouzounis CA. Highly consistent patterns for inherited human diseases at the molecular level.Bioinformatics, 22(3):269-77 (2006).

Calvo B, Lopez-Bigas N, Furney SJ, Larranaga P, Lozano JA. A partially supervised classification approach to dominant and recessive human disease gene prediction. Comput Methods Programs Biomed, 85(3):229-37(2007).

Tiffin N, Adie E, Turner F, Brunner HG, van Driel MA, Oti M, Lopez-Bigas N, Ouzounis C, Perez-Iratxeta C, Andrade-Navarro MA, Adeyemo A, Patti ME, Semple CA, Hide W. Computational disease gene identification: a concert of methodsprioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Res, 34(10):3067-81 (2006).

Furney SJ, Alba MM, Lopez-Bigas N. Differences in the evolutionary history of disease genes affected by dominant or recessive mutations. BMC Genomics, 7(0):165 (2006).

Lopez-Bigas N, Audit B, Ouzounis C, Parra G, Guigo R. Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett, 579(9):1900-3 (2005).

Lopez-Bigas N, Ouzounis CA. Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic Acids Res, 32(10):3108-14 (2004).