scholarly journals A visual atlas of genes tissue-specific pathological roles

2022 ◽  
Author(s):  
Priyadarshini Rai ◽  
Atishay Jain ◽  
Neha Jha ◽  
Divya Sharma ◽  
Shivani Kumar ◽  
...  

Dysregulation of a gene′s function, either due to mutations or impairments in regulatory networks, often triggers pathological states in the affected tissue. Comprehensive mapping of these apparent gene–pathology relationships is an ever daunting task, primarily due to genetic pleiotropy and lack of suitable computational approaches. With the advent of high throughput genomics platforms and community scale initiatives such as the Human Cell Landscape (HCL) project [1], researchers have been able to create gene expression portraits of healthy tissues resolved at the level of single cells. However, a similar wealth of knowledge is currently not at our finger–tip when it comes to diseases. This is because the genetic manifestation of a disease is often quite heterogeneous and is confounded by several clinical and demographic covariates. To circumvent this, we mined ≈18 million PubMed abstracts published till May 2019 and selected ≈6.1 million of them that describe the pathological role of genes in different diseases. Further, we employed a word embedding technique from the domain of Natural Language Processing (NLP) to learn vector representation of entities such as genes, diseases, tissues, etc., in a way such that their relationship is preserved in a vector space. Notably, Pathomap, by the virtue of its underpinning theory, also learns transitive relationships. Pathomap provided a vector representation of words indicating a possible association between DNMT3A/BCOR with CYLD cutaneous syndrome (CCS). The first manuscript reporting this finding was not part of our training data.

Author(s):  
Piotr Bojanowski ◽  
Edouard Grave ◽  
Armand Joulin ◽  
Tomas Mikolov

Continuous word representations, trained on large unlabeled corpora are useful for many natural language processing tasks. Popular models that learn such representations ignore the morphology of words, by assigning a distinct vector to each word. This is a limitation, especially for languages with large vocabularies and many rare words. In this paper, we propose a new approach based on the skipgram model, where each word is represented as a bag of character n-grams. A vector representation is associated to each character n-gram; words being represented as the sum of these representations. Our method is fast, allowing to train models on large corpora quickly and allows us to compute word representations for words that did not appear in the training data. We evaluate our word representations on nine different languages, both on word similarity and analogy tasks. By comparing to recently proposed morphological word representations, we show that our vectors achieve state-of-the-art performance on these tasks.


2013 ◽  
Vol 21 (8) ◽  
pp. 1371-1381
Author(s):  
Guangzhen JIA ◽  
Youyi LIU ◽  
Hua SHU ◽  
Xiaoping Fang
Keyword(s):  

Author(s):  
Annapoorani Gopal ◽  
Lathaselvi Gandhimaruthian ◽  
Javid Ali

The Deep Neural Networks have gained prominence in the biomedical domain, becoming the most commonly used networks after machine learning technology. Mammograms can be used to detect breast cancers with high precision with the help of Convolutional Neural Network (CNN) which is deep learning technology. An exhaustive labeled data is required to train the CNN from scratch. This can be overcome by deploying Generative Adversarial Network (GAN) which comparatively needs lesser training data during a mammogram screening. In the proposed study, the application of GANs in estimating breast density, high-resolution mammogram synthesis for clustered microcalcification analysis, effective segmentation of breast tumor, analysis of the shape of breast tumor, extraction of features and augmentation of the image during mammogram classification have been extensively reviewed.


2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Hong Wang ◽  
Aiping Duan ◽  
Jing Zhang ◽  
Qi Wang ◽  
Yuexian Xing ◽  
...  

AbstractElucidating transcription mediated by the glucocorticoid receptor (GR) is crucial for understanding the role of glucocorticoids (GCs) in the treatment of diseases. Podocyte is a useful model for studying GR regulation because GCs are the primary medication for podocytopathy. In this study, we integrated data from transcriptome, transcription factor binding, histone modification, and genome topology. Our data reveals that the GR binds and activates selective regulatory elements in podocyte. The 3D interactome captured by HiChIP facilitates the identification of remote targets of GR. We found that GR in podocyte is enriched at transcriptional interaction hubs and super-enhancers. We further demonstrate that the target gene of the top GR-associated super-enhancer is indispensable to the effective functioning of GC in podocyte. Our findings provided insights into the mechanisms underlying the protective effect of GCs on podocyte, and demonstrate the importance of considering transcriptional interactions in order to fine-map regulatory networks of GR.


Author(s):  
Yong Li ◽  
Xiaojun Yang ◽  
Min Zuo ◽  
Qingyu Jin ◽  
Haisheng Li ◽  
...  

The real-time and dissemination characteristics of network information make net-mediated public opinion become more and more important food safety early warning resources, but the data of petabyte (PB) scale growth also bring great difficulties to the research and judgment of network public opinion, especially how to extract the event role of network public opinion from these data and analyze the sentiment tendency of public opinion comment. First, this article takes the public opinion of food safety network as the research point, and a BLSTM-CRF model for automatically marking the role of event is proposed by combining BLSTM and conditional random field organically. Second, the Attention mechanism based on vocabulary in the field of food safety is introduced, the distance-related sequence semantic features are extracted by BLSTM, and the emotional classification of sequence semantic features is realized by using CNN. A kind of Att-BLSTM-CNN model for the analysis of public opinion and emotional tendency in the field of food safety is proposed. Finally, based on the time series, this article combines the role extraction of food safety events and the analysis of emotional tendency and constructs a net-mediated public opinion early warning model in the field of food safety according to the heat of the event and the emotional intensity of the public to food safety public opinion events.


Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1239
Author(s):  
Leila Jahangiri ◽  
Tala Ishola ◽  
Perla Pucci ◽  
Ricky M. Trigg ◽  
Joao Pereira ◽  
...  

Cancer stem cells (CSCs) possess properties such as self-renewal, resistance to apoptotic cues, quiescence, and DNA-damage repair capacity. Moreover, CSCs strongly influence the tumour microenvironment (TME) and may account for cancer progression, recurrence, and relapse. CSCs represent a distinct subpopulation in tumours and the detection, characterisation, and understanding of the regulatory landscape and cellular processes that govern their maintenance may pave the way to improving prognosis, selective targeted therapy, and therapy outcomes. In this review, we have discussed the characteristics of CSCs identified in various cancer types and the role of autophagy and long noncoding RNAs (lncRNAs) in maintaining the homeostasis of CSCs. Further, we have discussed methods to detect CSCs and strategies for treatment and relapse, taking into account the requirement to inhibit CSC growth and survival within the complex backdrop of cellular processes, microenvironmental interactions, and regulatory networks associated with cancer. Finally, we critique the computationally reinforced triangle of factors inclusive of CSC properties, the process of autophagy, and lncRNA and their associated networks with respect to hypoxia, epithelial-to-mesenchymal transition (EMT), and signalling pathways.


2021 ◽  
pp. 2-11
Author(s):  
David Aufreiter ◽  
Doris Ehrlinger ◽  
Christian Stadlmann ◽  
Margarethe Uberwimmer ◽  
Anna Biedersberger ◽  
...  

On the servitization journey, manufacturing companies complement their offerings with new industrial and knowledge-based services, which causes challenges of uncertainty and risk. In addition to the required adjustment of internal factors, the international selling of services is a major challenge. This paper presents the initial results of an international research project aimed at assisting advanced manufacturers in making decisions about exporting their service offerings to foreign markets. In the frame of this project, a tool is developed to support managers in their service export decisions through the automated generation of market information based on Natural Language Processing and Machine Learning. The paper presents a roadmap for progressing towards an Artificial Intelligence-based market information solution. It describes the research process steps of analyzing problem statements of relevant industry partners, selecting target countries and markets, defining parameters for the scope of the tool, classifying different service offerings and their components into categories and developing annotation scheme for generating reliable and focused training data for the Artificial Intelligence solution. This paper demonstrates good practices in essential steps and highlights common pitfalls to avoid for researcher and managers working on future research projects supported by Artificial Intelligence. In the end, the paper aims at contributing to support and motivate researcher and manager to discover AI application and research opportunities within the servitization field.


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