Predictive genomics is at the intersection of multiple disciplines: predictive medicine, personal genomics and translational bioinformatics. Specifically, predictive genomics deals with the future phenotypic outcomes via prediction in areas such as complex multifactorial diseases in humans.[1] To date, the success of predictive genomics has been dependent on the genetic framework underlying these applications, typically explored in genome-wide association (GWA) studies.[2] The identification of associated single-nucleotide polymorphisms (variation of a DNA sequence in a population) underpin GWA studies in complex diseases that have ranged from Type 2 Diabetes (T2D), Age-related macular degeneration (AMD) and Crohn's disease.
Although the Human Genome Project has progressively improved the fidelity of sequence determination, the overbearing complexity of the genome hinders the identification of associated or ultimately causal variants.[3] In particular, there are likely to be a large number of implicated genetic loci which exhibit small marginal effects.[4]
^Wray, N. R.; Goddard, M. E.; Visscher, P. M. (2007). "Prediction of individual genetic risk to disease from genome-wide association studies". Genome Research. 17 (10): 1520–8. doi:10.1101/gr.6665407. PMC 1987352. PMID 17785532.
^Hirschhorn, J. N.; Daly, M. J. (2005). "Genome-wide association studies for common diseases and complex traits". Nature Reviews Genetics. 6 (2): 95–108. doi:10.1038/nrg1521. PMID 15716906. S2CID 2813666.
^Janssens, A. C. J. W.; Van Duijn, C. M. (2008). "Genome-based prediction of common diseases: Advances and prospects". Human Molecular Genetics. 17 (R2): R166–73. doi:10.1093/hmg/ddn250. PMID 18852206.
^Hindorff, L. A.; Sethupathy, P.; Junkins, H. A.; Ramos, E. M.; Mehta, J. P.; Collins, F. S.; Manolio, T. A. (2009). "Potential etiologic and functional implications of genome-wide association loci for human diseases and traits". Proceedings of the National Academy of Sciences. 106 (23): 9362–7. Bibcode:2009PNAS..106.9362H. doi:10.1073/pnas.0903103106. PMC 2687147. PMID 19474294.
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