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Using SNP profiles | Using SNP profiles we have developed a computational framework for making diagnostic predictions regarding the likelihood that someone will develop dementia. A key feature of this framework is a neural network algorithm that, through machine learning, has been trained to predict patients or controls with high accuracy. Importantly, these predictions have proven to generalize well to hold-out genomes from independent sequencing projects, suggesting the classifier may perform well across samples of the general population. The bp status of just ~1k genomic loci was sufficient to to have 80% prediction accuracy. Furthermore, the neural net outputs a ‘confidence’ score for each prediction; on high-confidence predictions the classifier is over 90% accurate (''confidence'' is not quantified ''post hoc'', it is divined ''a priori'' by deep neural nets). Since the neural network weights have been trained, and because only a relatively small number of genomic targets are needed, we hope this system can be further developed into a clinical diagnostic tool. As it is, this is still far off; many independent test genomes will be required to validate such a tool. In the meanwhile, we hope to continue to improve the classifier's performance using novel data and methods. | ||
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