Investigating Genotype-Phenotype relationship extraction from biomedical text

During the last decade biomedicine has developed at a tremendous pace. Every day a lot of biomedical papers are published and a large amount of new information is produced. To help enable automated and human interaction in the multitude of applications of this biomedical data, the need for Natural Language Processing systems to process the vast amount of new information is increasing. Our main purpose in this research project is to extract the relationships between genotypes and phenotypes mentioned in the biomedical publications. Such a system provides important and up-to-date data for database construction and updating, and even text summarization. To achieve this goal we had to solve three main problems: finding genotype names, finding phenotype names, and finally extracting phenotype--genotype interactions. We consider all these required modules in a comprehensive system and propose a promising solution for each of them taking into account available tools and resources. BANNER, an open source biomedical named entity recognition system, which has achieved good results in detecting genotypes, has been used for the genotype name recognition task. We were the first group to start working on phenotype name recognition. We have developed two different systems (rule-based and machine-learning based) for extracting phenotype names from text. These systems incorporated the available knowledge from the Unified Medical Language System metathesaurus and the Human Phenotype Onotolgy (HPO). As there was no available annotated corpus for phenotype names, we created a valuable corpus with annotated phenotype names using information available in HPO and a self-training method which can be used for future research. To solve the final problem of this project i.e. , phenotype--genotype relationship extraction, a machine learning method has been proposed. As there was no corpus available for this task and it was not possible for us to annotate a sufficiently large corpus manually, a semi-automatic approach has been used to annotate a small corpus and a self-training method has been proposed to annotate more sentences and enlarge this corpus. A test set was manually annotated by an expert. In addition to having phenotype-genotype relationships annotated, the test set contains important comments about the nature of these relationships. The evaluation results related to each system demonstrate the significantly good performance of all the proposed methods

Classification of Radiology Reports Using Neural Attention Models

The electronic health record (EHR) contains a large amount of multi-dimensional and unstructured clinical data of significant operational and research value. Distinguished from previous studies, our approach embraces a double-annotated dataset and strays away from obscure "black-box" models to comprehensive deep learning models. In this paper, we present a novel neural attention mechanism that not only classifies clinically important findings. Specifically, convolutional neural networks (CNN) with attention analysis are used to classify radiology head computed tomography reports based on five categories that radiologists would account for in assessing acute and communicable findings in daily practice. The experiments show that our CNN attention models outperform non-neural models, especially when trained on a larger dataset. Our attention analysis demonstrates the intuition behind the classifier's decision by generating a heatmap that highlights attended terms used by the CNN model; this is valuable when potential downstream medical decisions are to be performed by human experts or the classifier information is to be used in cohort construction such as for epidemiological studies

A graph-based representation of Gene Expression profiles in DNA microarrays

This paper proposes a new and very flexible data model, called gene expression graph (GEG), for genes expression analysis and classification. Three features differentiate GEGs from other available microarray data representation structures: (i) the memory occupation of a GEG is independent of the number of samples used to built it; (ii) a GEG more clearly expresses relationships among expressed and non expressed genes in both healthy and diseased tissues experiments; (iii) GEGs allow to easily implement very efficient classifiers. The paper also presents a simple classifier for sample-based classification to show the flexibility and user-friendliness of the proposed data structur

The Evolution of Neural Network-Based Chart Patterns: A Preliminary Study

A neural network-based chart pattern represents adaptive parametric features, including non-linear transformations, and a template that can be applied in the feature space. The search of neural network-based chart patterns has been unexplored despite its potential expressiveness. In this paper, we formulate a general chart pattern search problem to enable cross-representational quantitative comparison of various search schemes. We suggest a HyperNEAT framework applying state-of-the-art deep neural network techniques to find attractive neural network-based chart patterns; These techniques enable a fast evaluation and search of robust patterns, as well as bringing a performance gain. The proposed framework successfully found attractive patterns on the Korean stock market. We compared newly found patterns with those found by different search schemes, showing the proposed approach has potential.Comment: 8 pages, In proceedings of Genetic and Evolutionary Computation Conference (GECCO 2017), Berlin, German