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Biological nomenclatures: a source of lexical knowledge and ambiguity.

There has been increased work in developing automated systems that involve natural language processing (NLP) to recognize and extract genomic information from the literature. Recognition and identification of biological entities is a critical step in this process. NLP systems generally rely on nomenclatures and ontological specifications as resources for determining the names of the entities, assigning semantic categories that are consistent with the corresponding ontology, and assignment of identifiers that map to well-defined entities within a particular nomenclature. Although nomenclatures and ontologies are valuable for text processing systems, they were developed to aid researchers and are heterogeneous in structure and semantics. A uniform resource that is automatically generated from diverse resources, and that is designed for NLP purposes would be a useful tool for the field, and would further database interoperability. This paper presents work towards this goal. We have automatically created lexical resources from four model organism nomenclature systems (mouse, fly, worm, and yeast), and have studied performance of the resources within an existing NLP system, GENIES. Using nomenclatures is not straightforward because issues concerning ambiguity, synonymy, and name variations are quite challenging. In this paper we focus mainly on ambiguity. We determined that the number of ambiguous gene names within the individual nomenclatures, across the four nomenclatures, and with general English ranged from 0%-10.18%, 1.187%-20.30%, and 0%-2.49% respectively. When actually processing text, we found the rate of ambiguous occurrences (not counting ambiguities stemming from English words) to range from 2.4%-32.9% depending on the organisms considered.

Artificial Intelligence↗

NLP-based information extraction for managing the molecular biology literature.

We present research aimed at devising a tool for using natural language processing to identify and extract biomedical information from text for the purpose of assisting researchers in molecular biology manage large amounts of information. A pilot project based on the molecular genetics of diabetes demonstrates our ability to explore the interaction of genomic phenomena and clinical findings. We suggest the cooperation of this extracted information with systems for clustering text and constructing labeled networks of data.

Diabetes Mellitus↗

Text-based discovery in biomedicine: the architecture of the DAD-system.

Current scientific research takes place in highly specialized contexts with poor communication between disciplines as a likely consequence. Knowledge from one discipline may be useful for the other without researchers knowing it. As scientific publications are a condensation of this knowledge, literature-based discovery tools may help the individual scientist to explore new useful domains. We report on the development of the DAD-system, a concept-based Natural Language Processing system for PubMed citations that provides the biomedical researcher such a tool. We describe the general architecture and illustrate its operation by a simulation of a well-known text-based discovery: The favorable effects of fish oil on patients suffering from Raynaud's disease [1].

Drug-Related Side Effects and Adverse Reactions↗

Locality-aware pooling enhances protein language model performance across varied applications.

MOTIVATION: Protein language models (PLMs) are amongst the most exciting recent advances for characterizing protein sequences, and have enabled a diverse set of applications, including structure determination, functional property prediction, and mutation impact assessment, all from single protein sequences alone. State-of-the-art PLMs leverage transformer architectures originally developed for natural language processing, and are pre-trained on large protein databases to generate contextualized representations of individual amino acids. To harness the power of these PLMs to predict protein-level properties, these per-residue embeddings are typically "pooled" to fixed-size vectors that are further utilized in downstream prediction networks. Common pooling strategies include Cls-Pooling and Avg-Pooling, but neither of these approaches can capture the local substructures and long-range interactions observed in proteins. RESULTS: We propose the use of attention pooling, which can naturally capture these important features of proteins. To make the expensive attention operator (quadratic in the length of the input protein) feasible in practice, we introduce bag-of-mer pooling, or BoM-Pooling, a locality-aware hierarchical pooling technique that combines windowed average pooling with attention pooling. We empirically demonstrate that both full attention pooling and BoM-Pooling outperform previous pooling strategies on three important, diverse tasks: (i) predicting the activities of two proteins as they are varied; (ii) detecting remote homologs; and (iii) predicting signaling protein interactions with peptides. Overall, our work highlights the advantages of biologically inspired pooling techniques in protein sequence modeling and is a step toward more effective adaptations of language models in biological settings. AVAILABILITY AND IMPLEMENTATION: https://github.com/Singh-Lab/bom-pooling.

Natural Language Processing↗

Automated extraction and normalization of findings from cancer-related free-text radiology reports.

UNLABELLED: We describe the performance of a particular natural language processing system that uses knowledge vectors to extract findings from radiology reports. LifeCode (A-Life Medical, Inc.) has been successfully coding reports for billing purposes for several years. In this study, we describe the use of LifeCode to code all findings within a set of 500 cancer-related radiology reports against a test set in which all findings were manually tagged. The system was trained with 1400 reports prior to running the test set. RESULTS: LifeCode had a recall of 84.5% and precision of 95.7% in the coding of cancer-related radiology report findings. CONCLUSION: Despite the use of a modest sized training set and minimal training iterations, when applied to cancer-related reports the system achieved recall and precision measures comparable to other reputable natural language processors in this domain.

Expert Systems↗

Finding GeneRIFs via gene ontology annotations.

A Gene Reference Into Function (GeneRIF) is a concise phrase describing a function of a gene in the Entrez Gene database. Applying techniques from the area of natural language processing known as automatic summarization, it is possible to link the Entrez Gene database, the Gene Ontology, and the biomedical literature. A system was implemented that automatically suggests a sentence from a PubMed/MEDLINE abstract as a candidate GeneRIF by exploiting a gene's GO annotations along with location features and cue words. Results suggest that the method can significantly increase the number of GeneRIF annotations in Entrez Gene, and that it produces qualitatively more useful GeneRIFs than other methods.

Algorithms↗

Evaluating natural language processors in the clinical domain.

Evaluating natural language processing (NLP) systems in the clinical domain is a difficult task which is important for advancement of the field. A number of NLP systems have been reported that extract information from free-text clinical reports, but not many of the systems have been evaluated. Those that were evaluated noted good performance measures but the results were often weakened by ineffective evaluation methods. In this paper we describe a set of criteria aimed at improving the quality of NLP evaluation studies. We present an overview of NLP evaluations in the clinical domain and also discuss the Message Understanding Conferences (MUC) [1-4]. Although these conferences constitute a series of NLP evaluation studies performed outside of the clinical domain, some of the results are relevant within medicine. In addition, we discuss a number of factors which contribute to the complexity that is inherent in the task of evaluating natural language systems.

Evaluation Studies as Topic↗

GeneWays: a system for extracting, analyzing, visualizing, and integrating molecular pathway data.

The immense growth in the volume of research literature and experimental data in the field of molecular biology calls for efficient automatic methods to capture and store information. In recent years, several groups have worked on specific problems in this area, such as automated selection of articles pertinent to molecular biology, or automated extraction of information using natural-language processing, information visualization, and generation of specialized knowledge bases for molecular biology. GeneWays is an integrated system that combines several such subtasks. It analyzes interactions between molecular substances, drawing on multiple sources of information to infer a consensus view of molecular networks. GeneWays is designed as an open platform, allowing researchers to query, review, and critique stored information.

Artificial Intelligence↗

Structured reporting in neuroradiology.

We have developed a system to structure free-text neuroradiology reports using a natural language processing program and formatted the output into the digital image and communication in medicine (DICOM) standard for structured reporting (SR). DICOM SR formats the correspondence of pertinent diagnostic images to the radiologist's dictated report of clinical findings. In addition, DICOM SR allows the information to be organized into a tree structure. Individual nodes of the tree can contain individual items or lists. Structuring the content of free-text information allows the creation of hierarchies with defined relationships between the concepts contained within the report.

Brain↗

The effect of feature representation on MEDLINE document classification.

This work explores the effect of text representation techniques on the overall performance of medical text classification. To accomplish this goal, we developed a text classification system that supports the very basic word representation (bag-of-words) and the more complex medical phrase representation (bag-of-phrases). We also combined word and phrase representations (hybrid) for further analysis. Our system extracts medical phrases from text by incorporating a medical knowledge base and natural language processing techniques. We conducted experiments to evaluate the effects of different representations by measuring the change in classification performance with MEDLINE documents from the OHSUMED dataset. We measured classification performance with information retrieval metrics; precision (p), recall (r), and F1-score (F1). In our experiments, we achieved better classification performance with the hybrid approach (p=0.87, r=0.46, F1=0.60) compared to the bag-of-words approach (p=0.85, r=0.44, F1=0.58) and the bag-of-phrases approach (p=0.87, r=0.42, F1=0.57).

Abstracting and Indexing↗

GENIA corpus--semantically annotated corpus for bio-textmining.

MOTIVATION: Natural language processing (NLP) methods are regarded as being useful to raise the potential of text mining from biological literature. The lack of an extensively annotated corpus of this literature, however, causes a major bottleneck for applying NLP techniques. GENIA corpus is being developed to provide reference materials to let NLP techniques work for bio-textmining. RESULTS: GENIA corpus version 3.0 consisting of 2000 MEDLINE abstracts has been released with more than 400,000 words and almost 100,000 annotations for biological terms.

Abstracting and Indexing↗

Biomedical knowledge navigation by literature clustering.

There is an urgent need for a system that facilitates surveys by biomedical researchers and the subsequent formulation of hypotheses based on the knowledge stored in literature. One approach is to cluster papers discussing a topic of interest and reveal its sub-topics that allow researchers to acquire an overview of the topic. We developed such a system called McSyBi. It accepts a set of citation data retrieved with PubMed and hierarchically and non-hierarchically clusters them based on the titles and the abstracts using statistical and natural language processing methods. A novel point is that McSyBi allows its users to change the clustering by entering a MeSH term or UMLS Semantic Type, and therefore they can see a set of citation data from multiple aspects. We evaluated McSyBi quantitatively and qualitatively: clustering of 27 sets of citation data (40643 different papers) and scrutiny of several resultant clusters. While non-hierarchical clustering provides us with an overview of the target topic, hierarchical clustering allows us to see more details and relationships among citation data. McSyBi is freely available at http://textlens.hgc.jp/McSyBi/.

Artificial Intelligence↗

Full text multilingual automatic morphosemantems for stand-alone or Internet based applications.

The authors present an automatic tool able to provide real-time morphosemantic decomposition of natural language sentences in French, German and English. This tool demonstrates the feasibility of Natural Language Processing on standard PC computers and the technology involved has been successfully implemented in daily used applications in several European hospitals. It considerably alleviates the burden of coding with various international classification and enhances the quality of the final results. This tool, delivered on PC platforms, is highly convivial and provides a versatile interface to any existing applications based on the Microsoft Windows standards. Moreover, all high levels functions have been encapsulated in Object Oriented Components and can therefore be reused using the Common Object Model standards to develop stand-alone or Internet applications.

Classification↗

Locative inferences in medical texts.

Medical research relies on epidemiological studies conducted on a large set of clinical records that have been collected from physicians recording individual patient observations. These clinical records are recorded for the purpose of individual care of the patient with little consideration for their use by a biostatistician interested in studying a disease over a large population. Natural language processing of clinical records for epidemiological studies must deal with temporal, locative, and conceptual issues. This makes text understanding and data extraction of clinical records an excellent area for applied research. While much has been done in making temporal or conceptual inferences in medical texts, parallel work in locative inferences has not been done. This paper examines the locative inferences as well as the integration of temporal, locative, and conceptual issues in the clinical record understanding domain by presenting an application that utilizes two key concepts in its parsing strategy--a knowledge-based parsing strategy and a minimal lexicon.

Artificial Intelligence↗

Biomedical literature mining: challenges and solutions in the 'omics' era.

It is now obvious that the rate-limiting step in high throughput experimentation is neither data acquisition nor analysis, but rather our ability to interpret data on a genome-wide scale. Indeed, the explosion of data sampling capacity combined with increasing publication rates greatly impairs our ability to find meaning in vast collections of data. In order to support data interpretation, bioinformatic tools are needed to identify critical information contained in large bodies of literature. However, extracting knowledge embedded in free text is an arduous task, compounded in the biomedical field by an inconsistent gene nomenclature, domain-specific language and restricted access to full text articles. This paper presents a selection of currently available biomedical literature mining software. These tools rely on statistic and, more recently, semantic analyses (Natural Language Processing) to automatically extract information from the literature. In addition, a literature mining strategy has been developed to explore patterns of term occurrences in abstracts. This method automatically identifies relevant keywords in collections of abstracts, and uses a pattern discovery algorithm to generate a visual interface for exploring functional associations among genes. Term occurrence heatmaps can also be combined with gene expression profiles to provide valuable functional annotations. Furthermore, as demonstrated with tumor cell line literature profiling results, this approach can be applied to a variety of themes beyond genomic data analysis. Altogether, these examples illustrate how literature analysis can be employed to support knowledge discovery in biomedical research.

Algorithms↗

Potential impact of advanced clinical information technology on cancer care in 2015.

New clinical information technologies now sporadically available will soon be in routine clinical use, bringing many changes to all phases of the cancer care continuum. For example, new technologies such as: (1) The next generation Internet; (2) Real-time clinical decision support systems; (3) Off-line, population-based systems; (4) Large, integrated, individual patient-level phenotypic and genotypic databases with intelligent data mining capabilities; (5) Wireless, invasive and non-invasive physiologic monitoring devices; (6) Natural Language Processing (NLP) systems; and (7) Mathematical models of complex biological systems all have the potential to impact significantly the provision of cancer care throughout its continuum. While new information management and communication techniques and technologies will reduce many of the inefficiencies and inaccuracies of our present systems, there will be an equal, and potentially far more dangerous, set of unintended consequences. Informatics investigators, cancer specialists, and health system administrators must focus on the study of what is working and what is not, as well as, on development and testing of the new clinical information management and communication technologies, if we are to be ready for the future.

Cancer Care Facilities↗

Effective retrieval in Hospital Information Systems: the use of context in answering queries to Patient Discharge Summaries.

The move towards the electronic storage of medical records in Hospital Information Systems (HISs) presents significant challenges for AI retrieval techniques. In this paper, we argue that adequate information retrieval in such systems will have to rely on the exploitation of the conceptual knowledge in those records rather than superficial string searches. However, this course of action is dependent on the developments of natural language processing techniques and on retrieval systems that can exploit semantic/conceptual knowledge. We present a retrieval system, which attempts to realise the second of these developments. This system, called CONIR [developed in the context of the European Community project MENELAS (AIM 2023)] operates in the domain of Patient Discharge Summaries on coronary illness. CONIR uses flexible retrieval techniques, that exploit conceptual context information, over a database of elaborated semantic records. In the course of the paper we outline the sorts of knowledge structures that are required to do this type of retrieval and indicate how they are constructed.

Abstracting and Indexing↗

A probabilistic model for identifying protein names and their name boundaries.

This paper proposes a method for identifying protein names in biomedical texts with an emphasis on detecting protein name boundaries. We use a probabilistic model which exploits several surface clues characterizing protein names and incorporates word classes for generalization. In contrast to previously proposed methods, our approach does not rely on natural language processing tools such as part-of-speech taggers and syntactic parsers, so as to reduce processing overhead and the potential number of probabilistic parameters to be estimated. A notion of certainty is also proposed to improve precision for identification. We implemented a protein name identification system based on our proposed method, and evaluated the system on real-world biomedical texts in conjunction with the previous work. The results showed that overall our system performs comparably to the state-of-the-art protein name identification system and that higher performance is achieved for compound names. In addition, it is demonstrated that our system can further improve precision by restricting the system output to those names with high certainties.

Artificial Intelligence↗