Please use this identifier to cite or link to this item: https://doi.org/10.1109/IEMBS.2011.6091599
Title: A hybrid framework for genome wide epistasis discovery
Authors: Tan, Z.
Zhang, Z.
Liu, J.
Kwoh, C.K.
Ong, S.H. 
Teo, Y.Y. 
Khor, C.C. 
Tai, E.S.
Aung, T.
Vithana, E.
Wong, T.Y. 
Issue Date: 2011
Citation: Tan, Z.,Zhang, Z.,Liu, J.,Kwoh, C.K.,Ong, S.H.,Teo, Y.Y.,Khor, C.C.,Tai, E.S.,Aung, T.,Vithana, E.,Wong, T.Y. (2011). A hybrid framework for genome wide epistasis discovery. Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBS : 6479-6482. ScholarBank@NUS Repository. https://doi.org/10.1109/IEMBS.2011.6091599
Abstract: A hybrid framework integrating Random Forest and Logistic Regression is proposed and implemented for genome-wide epistasis study. The two-stage approach first uses random forest model to capture a pool of epistasis-prone single nucleotide polymorphisms (SNPs), followed by using logistic regression to identify the significant pair-wise epistasis SNPs. We tested the proposed framework on data obtained from Singapore Malay Eye Study (SiMES), in which, 3280 subjects were genotyped on Illumina 610 quad arrays and optic nerve parameters were measured in ocular examination. Case-control data set is labeled by choosing the high/low end of vertical Cup-to-Disc ratio (vCDR) values which is a measure of optic nerve degeneration. Our method identified 230 pairs of interacting SNPs with P-values below 5×10 8. A preliminary search identified a protein interaction network at a high confidence score of 0.9. The proteins are known to participate in the WNT pathway with involvement in the survival and differentiation of the retina ganglion cells, inferring a strong association with vCDR. The experimental results demonstrate that the proposed framework is valid and efficient for large scale epistatsis study. © 2011 IEEE.
Source Title: Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBS
URI: http://scholarbank.nus.edu.sg/handle/10635/83358
ISBN: 9781424441211
ISSN: 1557170X
DOI: 10.1109/IEMBS.2011.6091599
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