Systematizing Genome Privacy Research: A Privacy-Enhancing Technologies Perspective

Rapid advances in human genomics are enabling researchers to gain a better understanding of the role of the genome in our health and well-being, stimulating hope for more effective and cost efficient healthcare. However, this also prompts a number of security and privacy concerns stemming from the distinctive characteristics of genomic data. To address them, a new research community has emerged and produced a large number of publications and initiatives. In this paper, we rely on a structured methodology to contextualize and provide a critical analysis of the current knowledge on privacy-enhancing technologies used for testing, storing, and sharing genomic data, using a representative sample of the work published in the past decade. We identify and discuss limitations, technical challenges, and issues faced by the community, focusing in particular on those that are inherently tied to the nature of the problem and are harder for the community alone to address. Finally, we report on the importance and difficulty of the identified challenges based on an online survey of genome data privacy expertsComment: To appear in the Proceedings on Privacy Enhancing Technologies (PoPETs), Vol. 2019, Issue

PubMed and Beyond: Recent Advances and Best Practices in Biomedical Literature Search

Biomedical research yields a wealth of information, much of which is only accessible through the literature. Consequently, literature search is an essential tool for building on prior knowledge in clinical and biomedical research. Although recent improvements in artificial intelligence have expanded functionality beyond keyword-based search, these advances may be unfamiliar to clinicians and researchers. In response, we present a survey of literature search tools tailored to both general and specific information needs in biomedicine, with the objective of helping readers efficiently fulfill their information needs. We first examine the widely used PubMed search engine, discussing recent improvements and continued challenges. We then describe literature search tools catering to five specific information needs: 1. Identifying high-quality clinical research for evidence-based medicine. 2. Retrieving gene-related information for precision medicine and genomics. 3. Searching by meaning, including natural language questions. 4. Locating related articles with literature recommendation. 5. Mining literature to discover associations between concepts such as diseases and genetic variants. Additionally, we cover practical considerations and best practices for choosing and using these tools. Finally, we provide a perspective on the future of literature search engines, considering recent breakthroughs in large language models such as ChatGPT. In summary, our survey provides a comprehensive view of biomedical literature search functionalities with 36 publicly available tools.Comment: 27 pages, 6 figures, 36 tool

Using Learning to Rank Approach to Promoting Diversity for Biomedical Information Retrieval with Wikipedia

In most of the traditional information retrieval (IR) models, the independent relevance assumption is taken, which assumes the relevance of a document is independent of other documents. However, the pitfall of this is the high redundancy and low diversity of retrieval result. This has been seen in many scenarios, especially in biomedical IR, where the information need of one query may refer to different aspects. Promoting diversity in IR takes the relationship between documents into account. Unlike previous studies, we tackle this problem in the learning to rank perspective. The main challenges are how to find salient features for biomedical data and how to integrate dynamic features into the ranking model. To address these challenges, Wikipedia is used to detect topics of documents for generating diversity biased features. A combined model is proposed and studied to learn a diversified ranking result. Experiment results show the proposed method outperforms baseline models

Search beyond traditional probabilistic information retrieval

"This thesis focuses on search beyond probabilistic information retrieval. Three ap- proached are proposed beyond the traditional probabilistic modelling. First, term associ- ation is deeply examined. Term association considers the term dependency using a factor analysis based model, instead of treating each term independently. Latent factors, con- sidered the same as the hidden variables of ""eliteness"" introduced by Robertson et al. to gain understanding of the relation among term occurrences and relevance, are measured by the dependencies and occurrences of term sequences and subsequences. Second, an entity-based ranking approach is proposed in an entity system named ""EntityCube"" which has been released by Microsoft for public use. A summarization page is given to summarize the entity information over multiple documents such that the truly relevant entities can be highly possibly searched from multiple documents through integrating the local relevance contributed by proximity and the global enhancer by topic model. Third, multi-source fusion sets up a meta-search engine to combine the ""knowledge"" from different sources. Meta-features, distilled as high-level categories, are deployed to diversify the baselines. Three modified fusion methods are employed, which are re- ciprocal, CombMNZ and CombSUM with three expanded versions. Through extensive experiments on the standard large-scale TREC Genomics data sets, the TREC HARD data sets and the Microsoft EntityCube Web collections, the proposed extended models beyond probabilistic information retrieval show their effectiveness and superiority.

Overview of BioCreAtIvE: critical assessment of information extraction for biology

<p>Abstract</p> <p>Background</p> <p>The goal of the first BioCreAtIvE challenge (Critical Assessment of Information Extraction in Biology) was to provide a set of common evaluation tasks to assess the state of the art for text mining applied to biological problems. The results were presented in a workshop held in Granada, Spain March 28–31, 2004. The articles collected in this <it>BMC Bioinformatics </it>supplement entitled "A critical assessment of text mining methods in molecular biology" describe the BioCreAtIvE tasks, systems, results and their independent evaluation.</p> <p>Results</p> <p>BioCreAtIvE focused on two tasks. The first dealt with extraction of gene or protein names from text, and their mapping into standardized gene identifiers for three model organism databases (fly, mouse, yeast). The second task addressed issues of functional annotation, requiring systems to identify specific text passages that supported Gene Ontology annotations for specific proteins, given full text articles.</p> <p>Conclusion</p> <p>The first BioCreAtIvE assessment achieved a high level of international participation (27 groups from 10 countries). The assessment provided state-of-the-art performance results for a basic task (gene name finding and normalization), where the best systems achieved a balanced 80% precision / recall or better, which potentially makes them suitable for real applications in biology. The results for the advanced task (functional annotation from free text) were significantly lower, demonstrating the current limitations of text-mining approaches where knowledge extrapolation and interpretation are required. In addition, an important contribution of BioCreAtIvE has been the creation and release of training and test data sets for both tasks. There are 22 articles in this special issue, including six that provide analyses of results or data quality for the data sets, including a novel inter-annotator consistency assessment for the test set used in task 2.</p

User-centered semantic dataset retrieval

Finding relevant research data is an increasingly important but time-consuming task in daily research practice. Several studies report on difficulties in dataset search, e.g., scholars retrieve only partial pertinent data, and important information can not be displayed in the user interface. Overcoming these problems has motivated a number of research efforts in computer science, such as text mining and semantic search. In particular, the emergence of the Semantic Web opens a variety of novel research perspectives. Motivated by these challenges, the overall aim of this work is to analyze the current obstacles in dataset search and to propose and develop a novel semantic dataset search. The studied domain is biodiversity research, a domain that explores the diversity of life, habitats and ecosystems. This thesis has three main contributions: (1) We evaluate the current situation in dataset search in a user study, and we compare a semantic search with a classical keyword search to explore the suitability of semantic web technologies for dataset search. (2) We generate a question corpus and develop an information model to figure out on what scientific topics scholars in biodiversity research are interested in. Moreover, we also analyze the gap between current metadata and scholarly search interests, and we explore whether metadata and user interests match. (3) We propose and develop an improved dataset search based on three components: (A) a text mining pipeline, enriching metadata and queries with semantic categories and URIs, (B) a retrieval component with a semantic index over categories and URIs and (C) a user interface that enables a search within categories and a search including further hierarchical relations. Following user centered design principles, we ensure user involvement in various user studies during the development process

Survey on Factuality in Large Language Models: Knowledge, Retrieval and Domain-Specificity

This survey addresses the crucial issue of factuality in Large Language Models (LLMs). As LLMs find applications across diverse domains, the reliability and accuracy of their outputs become vital. We define the Factuality Issue as the probability of LLMs to produce content inconsistent with established facts. We first delve into the implications of these inaccuracies, highlighting the potential consequences and challenges posed by factual errors in LLM outputs. Subsequently, we analyze the mechanisms through which LLMs store and process facts, seeking the primary causes of factual errors. Our discussion then transitions to methodologies for evaluating LLM factuality, emphasizing key metrics, benchmarks, and studies. We further explore strategies for enhancing LLM factuality, including approaches tailored for specific domains. We focus two primary LLM configurations standalone LLMs and Retrieval-Augmented LLMs that utilizes external data, we detail their unique challenges and potential enhancements. Our survey offers a structured guide for researchers aiming to fortify the factual reliability of LLMs.Comment: 62 pages; 300+ reference