Efficiently Reusing Natural Language Processing Models for Phenotype Identification in Free-text Electronic Medical Records: Methodological Study

Background: Many efforts have been put into the use of automated approaches, such as natural language processing (NLP), to mine or extract data from free-text medical records to construct comprehensive patient profiles for delivering better health-care. Reusing NLP models in new settings, however, remains cumbersome - requiring validation and/or retraining on new data iteratively to achieve convergent results. Objective: The aim of this work is to minimise the effort involved in reusing NLP models on free-text medical records. Methods: We formally define and analyse the model adaptation problem in phenotype identification tasks. We identify “duplicate waste” and “imbalance waste”, which collectively impede efficient model reuse. We propose a concept embedding based approach to minimise these sources of waste without the need for labelled data from new settings. Results: We conduct experiments on data from a large mental health registry to reuse NLP models in four phenotype identification tasks. The proposed approach can choose the best model for a new task, identifying up to 76% of phenotype mentions without the need for validation and model retraining, and with very good performance (93-97% accuracy). It can also provide guidance for validating and retraining the selected model for novel language patterns in new tasks, saving around 80% of the effort required in “blind” model-adaptation approaches. Conclusions: Adapting pre-trained NLP models for new tasks can be more efficient and effective if the language pattern landscapes of old settings and new settings can be made explicit and comparable. Our experiments show that the phenotype embedding approach is an effective way to model language patterns for phenotype identification tasks and that its use can guide efficient NLP model reuse

Efficient Reuse of Natural Language Processing Models for Phenotype-Mention Identification in Free-text Electronic Medical Records: A Phenotype Embedding Approach.

Background: Many efforts have been put into the use of automated approaches, such as natural language processing (NLP), to mine or extract data from free-text medical records to construct comprehensive patient profiles for delivering better health-care. Reusing NLP models in new settings, however, remains cumbersome - requiring validation and/or retraining on new data iteratively to achieve convergent results. Objective: The aim of this work is to minimize the effort involved in reusing NLP models on free-text medical records. Methods: We formally define and analyse the model adaptation problem in phenotype-mention identification tasks. We identify "duplicate waste" and "imbalance waste", which collectively impede efficient model reuse. We propose a phenotype embedding based approach to minimize these sources of waste without the need for labelled data from new settings. Results: We conduct experiments on data from a large mental health registry to reuse NLP models in four phenotype-mention identification tasks. The proposed approach can choose the best model for a new task, identifying up to 76% (duplicate waste), i.e. phenotype mentions without the need for validation and model retraining, and with very good performance (93-97% accuracy). It can also provide guidance for validating and retraining the selected model for novel language patterns in new tasks, saving around 80% (imbalance waste), i.e. the effort required in "blind" model-adaptation approaches. Conclusions: Adapting pre-trained NLP models for new tasks can be more efficient and effective if the language pattern landscapes of old settings and new settings can be made explicit and comparable. Our experiments show that the phenotype-mention embedding approach is an effective way to model language patterns for phenotype-mention identification tasks and that its use can guide efficient NLP model reuse

PERICLES Deliverable 4.3:Content Semantics and Use Context Analysis Techniques

The current deliverable summarises the work conducted within task T4.3 of WP4, focusing on the extraction and the subsequent analysis of semantic information from digital content, which is imperative for its preservability. More specifically, the deliverable defines content semantic information from a visual and textual perspective, explains how this information can be exploited in long-term digital preservation and proposes novel approaches for extracting this information in a scalable manner. Additionally, the deliverable discusses novel techniques for retrieving and analysing the context of use of digital objects. Although this topic has not been extensively studied by existing literature, we believe use context is vital in augmenting the semantic information and maintaining the usability and preservability of the digital objects, as well as their ability to be accurately interpreted as initially intended.PERICLE

An algorithmic framework for visualising and exploring multidimensional data

To help understand multidimensional data, information visualisation techniques are often applied to take advantage of human visual perception in exposing latent structure. A popular means of presenting such data is via two-dimensional scatterplots where the inter-point proximities reflect some notion of similarity between the entities represented. This can result in potentially interesting structure becoming almost immediately apparent. Traditional algorithms for carrying out this dimension reduction tend to have different strengths and weaknesses in terms of run times and layout quality. However, it has been found that the combination of algorithms can produce hybrid variants that exhibit significantly lower run times while maintaining accurate depictions of high-dimensional structure. The author's initial contribution in the creation of such algorithms led to the design and implementation of a software system (HIVE) for the development and investigation of new hybrid variants and the subsequent analysis of the data they transform. This development was motivated by the fact that there are potentially many hybrid algorithmic combinations to explore and therefore an environment that is conductive to their development, analysis and use is beneficial not only in exploring the data they transform but also in exploring the growing number of visualisation tools that these algorithms beget. This thesis descries three areas of the author's contribution to the field of information visualisation. Firstly, work on hybrid algorithms for dimension reduction is presented and their analysis shows their effectiveness. Secondly, the development of a framework for the creation of tailored hybrid algorithms is illustrated. Thirdly, a system embodying the framework, providing an environment conductive to the development, evaluation and use of the algorithms is described. Case studies are provided to demonstrate how the author and others have used and found value in the system across areas as diverse as environmental science, social science and investigative psychology, where multidimensional data are in abundance

Advances in Forensic Genetics

The book has 25 articles about the status and new directions in forensic genetics. Approximately half of the articles are invited reviews, and the remaining articles deal with new forensic genetic methods. The articles cover aspects such as sampling DNA evidence at the scene of a crime; DNA transfer when handling evidence material and how to avoid DNA contamination of items, laboratory, etc.; identification of body fluids and tissues with RNA; forensic microbiome analysis with molecular biology methods as a supplement to the examination of human DNA; forensic DNA phenotyping for predicting visible traits such as eye, hair, and skin colour; new ancestry informative DNA markers for estimating ethnic origin; new genetic genealogy methods for identifying distant relatives that cannot be identified with conventional forensic DNA typing; sensitive DNA methods, including single-cell DNA analysis and other highly specialised and sensitive methods to examine ancient DNA from unidentified victims of war; forensic animal genetics; genetics of visible traits in dogs; statistical tools for interpreting forensic DNA analyses, including the most used IT tools for forensic STR-typing and DNA sequencing; haploid markers (Y-chromosome and mitochondria DNA); inference of ethnic origin; a comprehensive logical framework for the interpretation of forensic genetic DNA data; and an overview of the ethical aspects of modern forensic genetics