scholarly journals HLA-SPREAD: A comprehensive resource for HLA associated diseases, drug reactions and SNPs across populations

2021 ◽  
Author(s):  
Dhwani Dholakia ◽  
Ankit Kalra ◽  
Uma Kanga ◽  
Mitali Mukerji

ABSTRACTExtreme complexity in the HLA system and its nomenclature makes it difficult to interpret and integrate relevant information for HLA associations with diseases, Adverse Drug Reactions (ADR), Transplantation. PubMed search displays ~110,000 studies on Human Leukocyte Antigens (HLA) reported from, diverse locations and on multiple populations and IPD-IMGT/HLA database houses data on 28,320 HLA alleles till date. We developed an automated pipeline with a unified graphical user interface HLA-SPREAD that provides a structured information on SNPs, Populations, REsources, ADRs and Diseases information. Information on HLA was extracted from ~24 million PubMed abstracts extracted using Natural Language Processing (NLP). Python scripts were used to mine and curate information on diseases, filter false positives and categorize to 24 tree hierarchical groups and named Entity Recognition (NER) algorithms and semantic analysis to infer HLA association(s). This resource from 116 countries and 47 ethnic groups provides interesting insights on: markers associated with allelic/haplotypic association in autoimmune, cancer, viral and skin diseases, transplantation outcome and ADRs for hypersensitivity. Summary information on clinically relevant biomarkers related to HLA disease associations with mapped susceptible/risk alleles are readily retrievable from HLASPREAD. This resource is first of its kind that can help uncover novel patterns in HLA gene-disease associations.

BMC Genomics ◽  
2022 ◽  
Vol 23 (1) ◽  
Author(s):  
Dhwani Dholakia ◽  
Ankit Kalra ◽  
Bishnu Raman Misir ◽  
Uma Kanga ◽  
Mitali Mukerji

AbstractExtreme complexity in the Human Leukocyte Antigens (HLA) system and its nomenclature makes it difficult to interpret and integrate relevant information for HLA associations with diseases, Adverse Drug Reactions (ADR) and Transplantation. PubMed search displays ~ 146,000 studies on HLA reported from diverse locations. Currently, IPD-IMGT/HLA (Robinson et al., Nucleic Acids Research 48:D948–D955, 2019) database houses data on 28,320 HLA alleles. We developed an automated pipeline with a unified graphical user interface HLA-SPREAD that provides a structured information on SNPs, Populations, REsources, ADRs and Diseases information. Information on HLA was extracted from ~ 28 million PubMed abstracts extracted using Natural Language Processing (NLP). Python scripts were used to mine and curate information on diseases, filter false positives and categorize to 24 tree hierarchical groups and named Entity Recognition (NER) algorithms followed by semantic analysis to infer HLA association(s). This resource from 109 countries and 40 ethnic groups provides interesting insights on: markers associated with allelic/haplotypic association in autoimmune, cancer, viral and skin diseases, transplantation outcome and ADRs for hypersensitivity. Summary information on clinically relevant biomarkers related to HLA disease associations with mapped susceptible/risk alleles are readily retrievable from HLASPREAD. The resource is available at URL http://hla-spread.igib.res.in/. This resource is first of its kind that can help uncover novel patterns in HLA gene-disease associations.


2014 ◽  
Vol 40 (2) ◽  
pp. 469-510 ◽  
Author(s):  
Khaled Shaalan

As more and more Arabic textual information becomes available through the Web in homes and businesses, via Internet and Intranet services, there is an urgent need for technologies and tools to process the relevant information. Named Entity Recognition (NER) is an Information Extraction task that has become an integral part of many other Natural Language Processing (NLP) tasks, such as Machine Translation and Information Retrieval. Arabic NER has begun to receive attention in recent years. The characteristics and peculiarities of Arabic, a member of the Semitic languages family, make dealing with NER a challenge. The performance of an Arabic NER component affects the overall performance of the NLP system in a positive manner. This article attempts to describe and detail the recent increase in interest and progress made in Arabic NER research. The importance of the NER task is demonstrated, the main characteristics of the Arabic language are highlighted, and the aspects of standardization in annotating named entities are illustrated. Moreover, the different Arabic linguistic resources are presented and the approaches used in Arabic NER field are explained. The features of common tools used in Arabic NER are described, and standard evaluation metrics are illustrated. In addition, a review of the state of the art of Arabic NER research is discussed. Finally, we present our conclusions. Throughout the presentation, illustrative examples are used for clarification.


Author(s):  
Kui Huang ◽  
Wen Nie ◽  
Nianxue Luo

Constructed emergency response scenarios provide a basis for decision makers to make management decisions, and the development of such scenarios considers earlier historical cases. Over the decades, the development of emergency response scenarios has mainly implemented the elements of historic cases to describe the grade and influence of an accident. This paper focuses on scenario construction and proposes a corresponding framework based on natural language processing (NLP) using text reports of marine oil spill accidents. For each accident, the original textual reports are first divided into sentence sets corresponding to the temporal evolution. Each sentence set is regarded as a textual description of a marine oil spill scenario. A method is proposed in this paper, based on parsing, named entity recognition (NER) and open information extraction (OpenIE) to process the relation triples that are extracted from the sentence sets. Finally, the relation triples are semantically clustered into different marine oil spill domains to construct scenarios. The research results are validated and indicate that the proposed scenario construction framework can be effectively used in practical applications.


Data ◽  
2021 ◽  
Vol 6 (7) ◽  
pp. 71
Author(s):  
Gonçalo Carnaz ◽  
Mário Antunes ◽  
Vitor Beires Nogueira

Criminal investigations collect and analyze the facts related to a crime, from which the investigators can deduce evidence to be used in court. It is a multidisciplinary and applied science, which includes interviews, interrogations, evidence collection, preservation of the chain of custody, and other methods and techniques of investigation. These techniques produce both digital and paper documents that have to be carefully analyzed to identify correlations and interactions among suspects, places, license plates, and other entities that are mentioned in the investigation. The computerized processing of these documents is a helping hand to the criminal investigation, as it allows the automatic identification of entities and their relations, being some of which difficult to identify manually. There exists a wide set of dedicated tools, but they have a major limitation: they are unable to process criminal reports in the Portuguese language, as an annotated corpus for that purpose does not exist. This paper presents an annotated corpus, composed of a collection of anonymized crime-related documents, which were extracted from official and open sources. The dataset was produced as the result of an exploratory initiative to collect crime-related data from websites and conditioned-access police reports. The dataset was evaluated and a mean precision of 0.808, recall of 0.722, and F1-score of 0.733 were obtained with the classification of the annotated named-entities present in the crime-related documents. This corpus can be employed to benchmark Machine Learning (ML) and Natural Language Processing (NLP) methods and tools to detect and correlate entities in the documents. Some examples are sentence detection, named-entity recognition, and identification of terms related to the criminal domain.


2021 ◽  
pp. 1-12
Author(s):  
Yingwen Fu ◽  
Nankai Lin ◽  
Xiaotian Lin ◽  
Shengyi Jiang

Named entity recognition (NER) is fundamental to natural language processing (NLP). Most state-of-the-art researches on NER are based on pre-trained language models (PLMs) or classic neural models. However, these researches are mainly oriented to high-resource languages such as English. While for Indonesian, related resources (both in dataset and technology) are not yet well-developed. Besides, affix is an important word composition for Indonesian language, indicating the essentiality of character and token features for token-wise Indonesian NLP tasks. However, features extracted by currently top-performance models are insufficient. Aiming at Indonesian NER task, in this paper, we build an Indonesian NER dataset (IDNER) comprising over 50 thousand sentences (over 670 thousand tokens) to alleviate the shortage of labeled resources in Indonesian. Furthermore, we construct a hierarchical structured-attention-based model (HSA) for Indonesian NER to extract sequence features from different perspectives. Specifically, we use an enhanced convolutional structure as well as an enhanced attention structure to extract deeper features from characters and tokens. Experimental results show that HSA establishes competitive performance on IDNER and three benchmark datasets.


2019 ◽  
pp. 1-8 ◽  
Author(s):  
Tomasz Oliwa ◽  
Steven B. Maron ◽  
Leah M. Chase ◽  
Samantha Lomnicki ◽  
Daniel V.T. Catenacci ◽  
...  

PURPOSE Robust institutional tumor banks depend on continuous sample curation or else subsequent biopsy or resection specimens are overlooked after initial enrollment. Curation automation is hindered by semistructured free-text clinical pathology notes, which complicate data abstraction. Our motivation is to develop a natural language processing method that dynamically identifies existing pathology specimen elements necessary for locating specimens for future use in a manner that can be re-implemented by other institutions. PATIENTS AND METHODS Pathology reports from patients with gastroesophageal cancer enrolled in The University of Chicago GI oncology tumor bank were used to train and validate a novel composite natural language processing-based pipeline with a supervised machine learning classification step to separate notes into internal (primary review) and external (consultation) reports; a named-entity recognition step to obtain label (accession number), location, date, and sublabels (block identifiers); and a results proofreading step. RESULTS We analyzed 188 pathology reports, including 82 internal reports and 106 external consult reports, and successfully extracted named entities grouped as sample information (label, date, location). Our approach identified up to 24 additional unique samples in external consult notes that could have been overlooked. Our classification model obtained 100% accuracy on the basis of 10-fold cross-validation. Precision, recall, and F1 for class-specific named-entity recognition models show strong performance. CONCLUSION Through a combination of natural language processing and machine learning, we devised a re-implementable and automated approach that can accurately extract specimen attributes from semistructured pathology notes to dynamically populate a tumor registry.


Information ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 79 ◽  
Author(s):  
Xiaoyu Han ◽  
Yue Zhang ◽  
Wenkai Zhang ◽  
Tinglei Huang

Relation extraction is a vital task in natural language processing. It aims to identify the relationship between two specified entities in a sentence. Besides information contained in the sentence, additional information about the entities is verified to be helpful in relation extraction. Additional information such as entity type getting by NER (Named Entity Recognition) and description provided by knowledge base both have their limitations. Nevertheless, there exists another way to provide additional information which can overcome these limitations in Chinese relation extraction. As Chinese characters usually have explicit meanings and can carry more information than English letters. We suggest that characters that constitute the entities can provide additional information which is helpful for the relation extraction task, especially in large scale datasets. This assumption has never been verified before. The main obstacle is the lack of large-scale Chinese relation datasets. In this paper, first, we generate a large scale Chinese relation extraction dataset based on a Chinese encyclopedia. Second, we propose an attention-based model using the characters that compose the entities. The result on the generated dataset shows that these characters can provide useful information for the Chinese relation extraction task. By using this information, the attention mechanism we used can recognize the crucial part of the sentence that can express the relation. The proposed model outperforms other baseline models on our Chinese relation extraction dataset.


2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
George Mastorakos ◽  
Aditya Khurana ◽  
Ming Huang ◽  
Sunyang Fu ◽  
Ahmad P. Tafti ◽  
...  

Background. Patients increasingly use asynchronous communication platforms to converse with care teams. Natural language processing (NLP) to classify content and automate triage of these messages has great potential to enhance clinical efficiency. We characterize the contents of a corpus of portal messages generated by patients using NLP methods. We aim to demonstrate descriptive analyses of patient text that can contribute to the development of future sophisticated NLP applications. Methods. We collected approximately 3,000 portal messages from the cardiology, dermatology, and gastroenterology departments at Mayo Clinic. After labeling these messages as either Active Symptom, Logistical, Prescription, or Update, we used NER (named entity recognition) to identify medical concepts based on the UMLS library. We hierarchically analyzed the distribution of these messages in terms of departments, message types, medical concepts, and keywords therewithin. Results. Active Symptom and Logistical content types comprised approximately 67% of the message cohort. The “Findings” medical concept had the largest number of keywords across all groupings of content types and departments. “Anatomical Sites” and “Disorders” keywords were more prevalent in Active Symptom messages, while “Drugs” keywords were most prevalent in Prescription messages. Logistical messages tended to have the lower proportions of “Anatomical Sites,”, “Disorders,”, “Drugs,”, and “Findings” keywords when compared to other message content types. Conclusions. This descriptive corpus analysis sheds light on the content and foci of portal messages. The insight into the content and differences among message themes can inform the development of more robust NLP models.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Nícia Rosário-Ferreira ◽  
Victor Guimarães ◽  
Vítor S. Costa ◽  
Irina S. Moreira

Abstract Background Blood cancers (BCs) are responsible for over 720 K yearly deaths worldwide. Their prevalence and mortality-rate uphold the relevance of research related to BCs. Despite the availability of different resources establishing Disease-Disease Associations (DDAs), the knowledge is scattered and not accessible in a straightforward way to the scientific community. Here, we propose SicknessMiner, a biomedical Text-Mining (TM) approach towards the centralization of DDAs. Our methodology encompasses Named Entity Recognition (NER) and Named Entity Normalization (NEN) steps, and the DDAs retrieved were compared to the DisGeNET resource for qualitative and quantitative comparison. Results We obtained the DDAs via co-mention using our SicknessMiner or gene- or variant-disease similarity on DisGeNET. SicknessMiner was able to retrieve around 92% of the DisGeNET results and nearly 15% of the SicknessMiner results were specific to our pipeline. Conclusions SicknessMiner is a valuable tool to extract disease-disease relationship from RAW input corpus.


2021 ◽  
Vol 75 (3) ◽  
pp. 94-99
Author(s):  
A.M. Yelenov ◽  
◽  
A.B. Jaxylykova ◽  

This research focuses on a comparative study of the Named Entity Recognition task for scientific article texts. Natural language processing could be considered as one of the cornerstones in the machine learning area which devotes its attention to the problems connected with the understanding of different natural languages and linguistic analysis. It was already shown that current deep learning techniques have a good performance and accuracy in such areas as image recognition, pattern recognition, computer vision, that could mean that such technology probably would be successful in the neuro-linguistic programming area too and lead to a dramatic increase on the research interest on this topic. For a very long time, quite trivial algorithms have been used in this area, such as support vector machines or various types of regression, basic encoding on text data was also used, which did not provide high results. The following dataset was used to process the experiment models: Dataset Scientific Entity Relation Core. The algorithms used were Long short-term memory, Random Forest Classifier with Conditional Random Fields, and Named-entity recognition with Bidirectional Encoder Representations from Transformers. In the findings, the metrics scores of all models were compared to each other to make a comparison. This research is devoted to the processing of scientific articles, concerning the machine learning area, because the subject is not investigated on enough properly level.The consideration of this task can help machines to understand natural languages better, so that they can solve other neuro-linguistic programming tasks better, enhancing scores in common sense.


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