Personalised information modelling technologies for personalised medicine

Personalised modelling offers a new and effective approach for the study in pattern recognition and knowledge discovery, especially for biomedical applications. The created models are more useful and informative for analysing and evaluating an individual data object for a given problem. Such models are also expected to achieve a higher degree of accuracy of prediction of outcome or classification than conventional systems and methodologies. Motivated by the concept of personalised medicine and utilising transductive reasoning, personalised modelling was recently proposed as a new method for knowledge discovery in biomedical applications. Personalised modelling aims to create a unique computational diagnostic or prognostic model for an individual. Here we introduce an integrated method for personalised modelling that applies global optimisation of variables (features) and an appropriate size of neighbourhood to create an accurate personalised model for an individual. This method creates an integrated computational system that combines different information processing techniques, applied at different stages of data analysis, e.g. feature selection, classification, discovering the interaction of genes, outcome prediction, personalised profiling and visualisation, etc. It allows for adaptation, monitoring and improvement of an individual’s model and leads to improved accuracy and unique personalised profiling that could be used for personalised treatment and personalised drug design

Predicting breast cancer risk, recurrence and survivability

This thesis focuses on predicting breast cancer at early stages by using machine learning algorithms based on biological datasets. The accuracy of those algorithms has been improved to enable the physicians to enhance the success of treatment, thus saving lives and avoiding several further medical tests

Deep Domain Adaptation Learning Framework for Associating Image Features to Tumour Gene Profile

While medical imaging and general pathology are routine in cancer diagnosis, genetic sequencing is not always assessable due to the strong phenotypic and genetic heterogeneity of human cancers. Image-genomics integrates medical imaging and genetics to provide a complementary approach to optimise cancer diagnosis by associating tumour imaging traits with clinical data and has demonstrated its potential in identifying imaging surrogates for tumour biomarkers. However, existing image-genomics research has focused on quantifying tumour visual traits according to human understanding, which may not be optimal across different cancer types. The challenge hence lies in the extraction of optimised imaging representations in an objective data-driven manner. Such an approach requires large volumes of annotated image data that are difficult to acquire. We propose a deep domain adaptation learning framework for associating image features to tumour genetic information, exploiting the ability of domain adaptation technique to learn relevant image features from close knowledge domains. Our proposed framework leverages the current state-of-the-art in image object recognition to provide image features to encode subtle variations of tumour phenotypic characteristics with domain adaptation techniques. The proposed framework was evaluated with current state-of-the-art in: (i) tumour histopathology image classification and; (ii) image-genomics associations. The proposed framework demonstrated improved accuracy of tumour classification, as well as providing additional data-derived representations of tumour phenotypic characteristics that exhibit strong image-genomics association. This thesis advances and indicates the potential of image-genomics research to reveal additional imaging surrogates to genetic biomarkers, which has the potential to facilitate cancer diagnosis

SAERMA: Stacked Autoencoder Rule Mining Algorithm for the Interpretation of Epistatic Interactions in GWAS for Extreme Obesity

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association studies (GWAS) use single-locus analysis where each SNP is independently tested for association with phenotypes. The limitation with this approach, however, is its inability to explain genetic variation in complex diseases. Alternative approaches are required to model the intricate relationships between SNPs. Our proposed approach extends GWAS by combining deep learning stacked autoencoders (SAEs) and association rule mining (ARM) to identify epistatic interactions between SNPs. Following traditional GWAS quality control and association analysis, the most significant SNPs are selected and used in the subsequent analysis to investigate epistasis. SAERMA controls the classification results produced in the final fully connected multi-layer feedforward artificial neural network (MLP) by manipulating the interestingness measures, support and confidence, in the rule generation process. The best classification results were achieved with 204 SNPs compressed to 100 units (77% AUC, 77% SE, 68% SP, 53% Gini, logloss=0.58, and MSE=0.20), although it was possible to achieve 73% AUC (77% SE, 63% SP, 45% Gini, logloss=0.62, and MSE=0.21) with 50 hidden units - both supported by close model interpretation

Graph Contrastive Learning for Multi-omics Data

Advancements in technologies related to working with omics data require novel computation methods to fully leverage information and help develop a better understanding of human diseases. This paper studies the effects of introducing graph contrastive learning to help leverage graph structure and information to produce better representations for downstream classification tasks for multi-omics datasets. We present a learnining framework named Multi-Omics Graph Contrastive Learner(MOGCL) which outperforms several aproaches for integrating multi-omics data for supervised learning tasks. We show that pre-training graph models with a contrastive methodology along with fine-tuning it in a supervised manner is an efficient strategy for multi-omics data classification

Radiogenomics Framework for Associating Medical Image Features with Tumour Genetic Characteristics

Significant progress has been made in the understanding of human cancers at the molecular genetics level and it is providing new insights into their underlying pathophysiology. This progress has enabled the subclassification of the disease and the development of targeted therapies that address specific biological pathways. However, obtaining genetic information remains invasive and costly. Medical imaging is a non-invasive technique that captures important visual characteristics (i.e. image features) of abnormalities and plays an important role in routine clinical practice. Advancements in computerised medical image analysis have enabled quantitative approaches to extract image features that can reflect tumour genetic characteristics, leading to the emergence of ‘radiogenomics’. Radiogenomics investigates the relationships between medical imaging features and tumour molecular characteristics, and enables the derivation of imaging surrogates (radiogenomics features) to genetic biomarkers that can provide alternative approaches to non-invasive and accurate cancer diagnosis. This thesis presents a new framework that combines several novel methods for radiogenomics analysis that associates medical image features with tumour genetic characteristics, with the main objectives being: i) a comprehensive characterisation of tumour image features that reflect underlying genetic information; ii) a method that identifies radiogenomics features encoding common pathophysiological information across different diseases, overcoming the dependence on large annotated datasets; and iii) a method that quantifies radiogenomics features from multi-modal imaging data and accounts for unique information encoded in tumour heterogeneity sub-regions. The present radiogenomics methods advance radiogenomics analysis and contribute to improving research in computerised medical image analysis

Advances in quantum machine learning

Here we discuss advances in the field of quantum machine learning. The following document offers a hybrid discussion; both reviewing the field as it is currently, and suggesting directions for further research. We include both algorithms and experimental implementations in the discussion. The field's outlook is generally positive, showing significant promise. However, we believe there are appreciable hurdles to overcome before one can claim that it is a primary application of quantum computation.Comment: 38 pages, 17 Figure