PACS: Prediction and analysis of cancer subtypes from multi-omics data based on a multi-head attention mechanism model

Due to the high heterogeneity and clinical characteristics of cancer, there are significant differences in multi-omic data and clinical characteristics among different cancer subtypes. Therefore, accurate classification of cancer subtypes can help doctors choose the most appropriate treatment options, improve treatment outcomes, and provide more accurate patient survival predictions. In this study, we propose a supervised multi-head attention mechanism model (SMA) to classify cancer subtypes successfully. The attention mechanism and feature sharing module of the SMA model can successfully learn the global and local feature information of multi-omics data. Second, it enriches the parameters of the model by deeply fusing multi-head attention encoders from Siamese through the fusion module. Validated by extensive experiments, the SMA model achieves the highest accuracy, F1 macroscopic, F1 weighted, and accurate classification of cancer subtypes in simulated, single-cell, and cancer multiomics datasets compared to AE, CNN, and GNN-based models. Therefore, we contribute to future research on multiomics data using our attention-based approach.Comment: Submitted to BIBM202

Learning models for classifying Raman spectra of genomic DNA from tumor subtypes

An early and accurate detection of different subtypes of tumors is crucial for an effective guidance to personalized therapy and in predicting the ability of tumor to metastasize. Here we exploit the Surface Enhanced Raman Scattering (SERS) platform, based on disordered silver coated silicon nanowires (Ag/SiNWs), to efficiently discriminate genomic DNA of different subtypes of melanoma and colon tumors. The diagnostic information is obtained by performing label free Raman maps of the dried drops of DNA solutions onto the Ag/NWs mat and leveraging the classification ability of learning models to reveal the specific and distinct physico-chemical interaction of tumor DNA molecules with the Ag/NW, here supposed to be partly caused by a different DNA methylation degree

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

Deep Learning Models for Predicting Phenotypic Traits and Diseases from Omics Data

Computational analysis of high-throughput omics data, such as gene expressions, copy number alterations and DNA methylation (DNAm), has become popular in disease studies in recent decades because such analyses can be very helpful to predict whether a patient has certain disease or its subtypes. However, due to the high-dimensional nature of the data sets with hundreds of thousands of variables and very small number of samples, traditional machine learning approaches, such as support vector machines (SVMs) and random forests, have limitations to analyze these data efficiently. In this chapter, we reviewed the progress in applying deep learning algorithms to solve some biological questions. The focus is on potential software tools and public data sources for the tasks. Particularly, we show some case studies using deep neural network (DNN) models for classifying molecular subtypes of breast cancer and DNN-based regression models to account for interindividual variation in triglyceride concentrations measured at different visits of peripheral blood samples using DNAm profiles. We show that integration of multi-omics profiles into DNN-based learning methods could improve the prediction of the molecular subtypes of breast cancer. We also demonstrate the superiority of our proposed DNN models over the SVM model for predicting triglyceride concentrations

Vibrational spectroscopy : are we close to finding a solution for early pancreatic cancer diagnosis?

Pancreatic cancer (PC) is an aggressive and lethal neoplasm, ranking seventh in the world for cancer deaths, with an overall 5-year survival rate of below 10%. The knowledge about PC pathogenesis is rapidly expanding. New aspects of tumor biology, including its molecular and morphological heterogeneity, have been reported to explain the complicated "cross-talk" that occurs between the cancer cells and the tumor stroma or the nature of pancreatic ductal adenocarcinoma-associated neural remodeling. Nevertheless, currently, there are no specific and sensitive diagnosis options for PC. Vibrational spectroscopy (VS) shows a promising role in the development of early diagnosis technology. In this review, we summarize recent reports about improvements in spectroscopic methodologies, briefly explain and highlight the drawbacks of each of them, and discuss available solutions. The important aspects of spectroscopic data evaluation with multivariate analysis and a convolutional neural network methodology are depicted. We conclude by presenting a study design for systemic verification of the VS-based methods in the diagnosis of PC

iSOM-GSN: An Integrative Approach for Transforming Multi-omic Data into Gene Similarity Networks via Self-organizing Maps

Deep learning models are currently applied in diverse domains, including image recognition, text generation, and event prediction. With the advent of new high-throughput sequencing technologies, a multitude of genomic data has been generated and made available. The representation of such data using deep neural networks, or for that matter, application of differential analysis has, however, not been able to match the growth of that data. One of the main challenges in applying convolutional neural networks on gene interaction data is the lack of understanding of the vector space domain to which they belong and also the inherent difficulties involved in representing those interactions on a significantly lower dimension viz Euclidean spaces. These challenges become more prevalent when dealing with various types of omics data with different forms. In this regard, we introduce a systematic, and generalized method, called iSOM-GSN, used to transform multi-omic genomic data with higher-dimensions into a two-dimensional grid. Afterwards, we apply a convolutional neural network (CNN) to predict disease states of various types. Based on the idea of the Kohonen\u27s self-organizing map (SOM), we generate a two-dimensional grid for each sample for a given set of genes that represent a gene similarity network (GSN). The set of genes that are significantly highly mutated across the whole genome, are related to each other based on functional interactions. We then test the model to predict breast and prostate cancer stages using gene expression, DNA methylation, and copy number alteration, yielding accuracies in the 94-98% range for tumor stages of breast cancer and calculated Gleason scores of prostate cancer with just 14 input genes for both cases. To our knowledge, this is the first attempt to use self-organizing maps and convolutional neural networks on integrating high-dimensional multi-omics data. The scheme not only outputs nearly perfect classification accuracy, but also provides an enhanced scheme for visualization, dimensionality reduction, and interpretation of the results

A Deep Learning Approach to Integrate Medical Big Data for Improving Health Services in Indonesia

Medical Informatics to support health services in Indonesia is proposed in this paper. The focuses of paper to the analysis of Big Data for health care purposes with the aim of improving and developing clinical decision support systems (CDSS) or assessing medical data both for quality assurance and accessibility of health services. Electronic health records (EHR) are very rich in medical data sourced from patient. All the data can be aggregated to produce information, which includes medical history details such as, diagnostic tests, medicines and treatment plans, immunization records, allergies, radiological images, multivariate sensors device, laboratories, and test results. All the information will provide a valuable understanding of disease management system. In Indonesia country, with many rural areas with limited doctor it is an important case to investigate. Data mining about large-scale individuals and populations through EHRs can be combined with mobile networks and social media to inform about health and public policy. To support this research, many researchers have been applied the Deep Learning (DL) approach in data-mining problems related to health informatics. However, in practice, the use of DL is still questionable due to achieve optimal performance, relatively large data and resources are needed, given there are other learning algorithms that are relatively fast but produce close performance with fewer resources and parameterization, and have a better interpretability. In this paper, the advantage of Deep Learning to design medical informatics is described, due to such an approach is needed to make a good CDSS of health services

Deep-Learning for Classification of Colorectal Polyps on Whole-Slide Images

Histopathological characterization of colorectal polyps is an important principle for determining the risk of colorectal cancer and future rates of surveillance for patients. This characterization is time-intensive, requires years of specialized training, and suffers from significant inter-observer and intra-observer variability. In this work, we built an automatic image-understanding method that can accurately classify different types of colorectal polyps in whole-slide histology images to help pathologists with histopathological characterization and diagnosis of colorectal polyps. The proposed image-understanding method is based on deep-learning techniques, which rely on numerous levels of abstraction for data representation and have shown state-of-the-art results for various image analysis tasks. Our image-understanding method covers all five polyp types (hyperplastic polyp, sessile serrated polyp, traditional serrated adenoma, tubular adenoma, and tubulovillous/villous adenoma) that are included in the US multi-society task force guidelines for colorectal cancer risk assessment and surveillance, and encompasses the most common occurrences of colorectal polyps. Our evaluation on 239 independent test samples shows our proposed method can identify the types of colorectal polyps in whole-slide images with a high efficacy (accuracy: 93.0%, precision: 89.7%, recall: 88.3%, F1 score: 88.8%). The presented method in this paper can reduce the cognitive burden on pathologists and improve their accuracy and efficiency in histopathological characterization of colorectal polyps, and in subsequent risk assessment and follow-up recommendations