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Gyori, B. M.

Publications and source records attributed to Gyori, B. M..

18 recordsLinked to original sources

MSstatsBioNet: Integrating Statistical Analyses with Prior Knowledge Biomolecular Networks for Quantitative Proteomics and Phosphoproteomics

A common outcome of quantitative mass spectrometry-based proteomic and phosphoproteomic experiments is a list of proteins that are differentially abundant between conditions. However, biological interpretation requires evaluation in the context of prior knowledge of biological mechanisms and protein function. One approach to facilitate mechanistic biological interpretation is to integrate such lists with biological network databases, built from manually curated resources and text mining systems. This manuscript automates this process with MSstatsBioNet, a Bioconductor package that integrates MSstats, a family of open-source packages for detecting differentially abundant proteins, and INDRA, a system that extracts biomolecular networks from biomedical literature using text mining and merges those networks with the content of curated knowledge bases. Taking as input a list of differentially abundant proteins from MSstats, MSstatsBioNet retrieves a protein subnetwork from INDRA and overlays experimental fold changes onto the underlying subnetwork. Users can then interact with the network and overlaid data, interrogating primary literature evidence to construct granular mechanistic narratives for iterative hypothesis generation. We demonstrate the utility of this approach with three case studies, two measuring changes in protein abundance and one measuring changes in phosphorylation.

bioinformatics↗

Polypharmacology of an Optimal Kinase Library

Despite decades of research, current understanding of the spectrum of targets bound by kinase inhibitors remains incomplete. This complicates mechanism of action studies, drug repurposing, and development of new therapies. Here, we describe kinome-wide profiling of an optimal kinase library (OKL) comprising 192 small molecules selected based on stage of clinical development, chemical diversity, and target coverage. Our results show that polypharmacology is widespread and independent of regulatory approval. The generally understood ("assigned") targets of approved molecules are not necessarily the most potently inhibited and off-targets include multiple understudied kinases. Moreover, median selectivity has not increased over time We illustrate how an OKL in combination with detailed kinome profiling can be used to identify potential toxicity targets, repurpose anti-inflammatory drugs for neurodegenerative and infectious diseases, and perform chemical genetic studies. Our studies also highlight how much remains to be discovered about the chemistry and biology of one of the largest classes of human therapeutics.

pharmacology and toxicology↗

Assembly and reasoning over semantic mappings at scale for biomedical data integration

MotivationHundreds of resources assign identifiers to biomedical concepts including genes, small molecules, biological processes, diseases, and cell types. Often, these resources overlap by assigning identifiers to the same or related concepts. This creates a data interoperability bottleneck, as integrating data sets and knowledge bases that use identifiers for the same concepts from different resources require such identifiers to be mapped to each other. However, available mappings are incomplete and fragmented across individual resources, motivating their large-scale integration. ResultsWe developed SeMRA, a software tool that integrates mappings from multiple sources into a graph data structure. Using graph algorithms, it infers missing mappings implied by available ones while keeping track of provenance and confidence. This allows connecting identifier spaces between which direct mapping was previously not possible. SeMRA is customizable and takes a declarative specification as input describing sources to integrate with additional configuration parameters. We make available an aggregated mappings resource produced by SeMRA consisting of 43.4 million mappings from 127 sources that jointly cover identifiers from 445 ontologies and databases. We also describe benchmarks on specific use cases such as integrating mappings between resources cataloging diseases or cell types. AvailabilityThe code is available under the MIT license at https://github.com/biopragmatics/semra. The mappings database assembled by SeMRA is available at https://zenodo.org/records/15208251. Contactcthoyt@gmail.com and b.gyori@northeastern.edu

bioinformatics↗

A versatile and interoperable computational framework for the analysis and modeling of COVID-19 disease mechanisms

The COVID-19 Disease Map project is a large-scale community effort uniting 277 scientists from 130 Institutions around the globe. We use high-quality, mechanistic content describing SARS-CoV-2-host interactions and develop interoperable bioinformatic pipelines for novel target identification and drug repurposing. Community-driven and highly interdisciplinary, the project is collaborative and supports community standards, open access, and the FAIR data principles. The coordination of community work allowed for an impressive step forward in building interfaces between Systems Biology tools and platforms. Our framework links key molecules highlighted from broad omics data analysis and computational modeling to dysregulated pathways in a cell-, tissue- or patient-specific manner. We also employ text mining and AI-assisted analysis to identify potential drugs and drug targets and use topological analysis to reveal interesting structural features of the map. The proposed framework is versatile and expandable, offering a significant upgrade in the arsenal used to understand virus-host interactions and other complex pathologies.

systems biology↗

Prediction and Curation of Missing Biomedical Identifier Mappings with Biomappings

MotivationBiomedical identifier resources (ontologies, taxonomies, controlled vocabularies) commonly overlap in scope and contain equivalent entries under different identifiers. Maintaining mappings for these relationships is crucial for interoperability and the integration of data and knowledge. However, there are substantial gaps in available mappings motivating their semi-automated curation. ResultsBiomappings implements a curation cycle workflow for missing mappings which combines automated prediction with human-in-the-loop curation. It supports multiple prediction approaches and provides a web-based user interface for reviewing predicted mappings for correctness, combined with automated consistency checking. Predicted and curated mappings are made available in public, version-controlled resource files on GitHub. Biomappings currently makes available 8,560 curated mappings and 41,178 predicted ones, providing previously missing mappings between widely used resources covering small molecules, cell lines, diseases and other concepts. We demonstrate the value of Biomappings on case studies involving predicting and curating missing mappings among cancer cell lines as well as small molecules tested in clinical trials. We also present how previously missing mappings curated using Biomappings were contributed back to multiple widely used community ontologies. AvailabilityThe data and code are available under the CC0 and MIT licenses at https://github.com/biopragmatics/biomappings. Contactbenjamin_gyori@hms.harvard.edu

bioinformatics↗

NDEx IQuery: a multi-method network gene set analysis leveraging the Network Data Exchange

MotivationThe investigation of sets of genes using biological pathways is a common task for researchers and is supported by a wide variety of software tools. This type of analysis generates hypotheses about the biological processes active or modulated in a specific experimental context. ResultsThe NDEx Integrated Query (IQuery) is a new tool for network and pathway-based gene set interpretation that complements or extends existing resources. It combines novel sources of pathways, integration with Cytoscape, and the ability to store and share analysis results. The IQuery web application performs multiple gene set analyses based on diverse pathways and networks stored in NDEx. These include curated pathways from WikiPathways and SIGNOR, published pathway figures from the last 27 years, machine-assembled networks using the INDRA system, and the new NCI-PID v2.0, an updated version of the popular NCI Pathway Interaction Database. IQuerys integration with MSigDB and cBioPortal now provides pathway analysis in the context of these two resources. Availability and ImplementationIQuery is available at https://www.ndexbio.org/iquery and is implemented in Javascript and Java. ContactDexter Pratt (depratt@health.ucsd.edu)

bioinformatics↗

Automated assembly of molecular mechanisms at scale from text mining and curated databases

The analysis of omic data depends heavily on machine-readable information about protein interactions, modifications, and activities. Key resources include protein interaction networks, databases of post-translational modifications, and curated models of gene and protein function. Software systems that read primary literature can potentially extend and update such resources while reducing the burden on human curators, but machine-reading software systems have a high error rate. Here we describe an approach to precisely assemble molecular mechanisms at scale using natural language processing systems and the Integrated Network and Dynamical Reasoning Assembler (INDRA). INDRA identifies overlaps and redundancies in information extracted from published papers and pathway databases and uses probability models to reduce machine reading errors. INDRA enables the automated creation of high-quality, non-redundant corpora for use in data analysis and causal modeling. We demonstrate the use of INDRA in extending protein-protein interaction databases and explaining co-dependencies in the Cancer Dependency Map.

systems biology↗

The Bioregistry: Unifying the Identification of Biomedical Entities through an Integrative, Open, Community-driven Metaregistry

The standardized identification of biomedical entities is a cornerstone of interoperability, reuse, and data integration in the life sciences. Several registries have been developed to catalog resources maintaining identifiers for biomedical entities such as small molecules, proteins, cell lines, and clinical trials. However, existing registries have struggled to provide sufficient coverage and metadata standards that meet the evolving needs of modern life sciences researchers. Here, we introduce the Bioregistry, an integrative, open, community-driven metaregistry that synthesizes and substantially expands upon 23 existing registries. The Bioregistry addresses the need for a sustainable registry by leveraging public infrastructure and automation, and employing a progressive governance model centered around open code and open data to foster community contribution. The Bioregistry can be used to support the standardized annotation of data, models, ontologies, and scientific literature, thereby promoting their interoperability and reuse. The Bioregistry can be accessed through https://bioregistry.io and its source code and data are available under the MIT and CC0 Licenses at https://github.com/biopragmatics/bioregistry.

bioinformatics↗

Gilda: biomedical entity text normalization with machine-learned disambiguation as a service

SummaryGilda is a software tool and web service which implements a scored string matching algorithm for names and synonyms across entries in biomedical ontologies covering genes, proteins (and their families and complexes), small molecules, biological processes and diseases. Gilda integrates machine-learned disambiguation models to choose between ambiguous strings given relevant surrounding text as context, and supports species-prioritization in case of ambiguity. AvailabilityThe Gilda web service is available at http://grounding.indra.bio with source code, documentation and tutorials are available via https://github.com/indralab/gilda. Contactbenjamin_gyori@hms.harvard.edu

bioinformatics↗

STonKGs: A Sophisticated Transformer Trained on Biomedical Text and Knowledge Graphs

The majority of biomedical knowledge is stored in structured databases or as unstructured text in scientific publications. This vast amount of information has led to numerous machine learning-based biological applications using either text through natural language processing (NLP) or structured data through knowledge graph embedding models (KGEMs). However, representations based on a single modality are inherently limited. To generate better representations of biological knowledge, we propose STonKGs, a Sophisticated Transformer trained on biomedical text and Knowledge Graphs. This multimodal Transformer uses combined input sequences of structured information from KGs and unstructured text data from biomedical literature to learn joint representations. First, we pre-trained STonKGs on a knowledge base assembled by the Integrated Network and Dynamical Reasoning Assembler (INDRA) consisting of millions of text-triple pairs extracted from biomedical literature by multiple NLP systems. Then, we benchmarked STonKGs against two baseline models trained on either one of the modalities (i.e., text or KG) across eight different classification tasks, each corresponding to a different biological application. Our results demonstrate that STonKGs outperforms both baselines, especially on the more challenging tasks with respect to the number of classes, improving upon the F1-score of the best baseline by up to 0.083. Additionally, our pre-trained model as well as the model architecture can be adapted to various other transfer learning applications. Finally, the source code and pre-trained STonKGs models are available at https://github.com/stonkgs/stonkgs and https://huggingface.co/stonkgs/stonkgs-150k.

bioinformatics↗

Integrating multi-omics data reveals function and therapeutic potential of deubiquitinating enzymes

Deubiquitinating enzymes (DUBs) are proteases that remove ubiquitin conjugates from proteins, thereby regulating protein turnover. Inhibition of DUBs promises to make classically undruggable targets such as the tumor suppressor TP53 and oncogene c-Myc amenable to regulation by small molecules. However, the majority of substrates and pathways regulated by DUBs remain unknown, impeding efforts to prioritize specific enzymes for research and drug development. To assemble a knowledgebase of DUB activities, co-dependent genes, and substrates, we combined targeted experiments using CRISPR libraries and inhibitors with systematic mining of functional genomic databases. Analysis of the Dependency Map, Connectivity Map, Cancer Cell Line Encyclopedia, and protein-protein interaction databases yielded specific hypotheses about DUB function, a subset of which were confirmed in follow-on experiments. The data in this paper, which are browsable online via the DUB Portal, promise to improve understanding of DUBs as a family as well as the activities of specific DUBs such as USP14, UCHL5 and USP7, which have been targeted with investigational cancer therapeutics.

cancer biology↗

Capturing scientific knowledge in computable form

Technological advances in computing provide major opportunities to accelerate scientific discovery. The wide availability of structured knowledge would allow us to take full advantage of these by enabling efficient human-computer interaction. Traditionally, biological knowledge is captured in publications and knowledge bases, however, the information in articles is not directly accessible to computers, and knowledge bases are constrained by finite resources available for manual curation. To accelerate knowledge capture and communication and to keep pace with the rapid growth of scientific reports, we developed the Biofactoid (biofactoid.org) software suite, which crowdsources structured knowledge in articles from authors. Biofactoid is a web-based system that lets scientists draw a network of interactions between genes, their products, and chemical compounds and employs smart-automation to translate user input into a structured language using the expressive power of a formal ontology. The resulting data is shared via public information resources, enabling author-curated knowledge to be appreciated in the context of all existing computable knowledge. Authors of recently published papers across a range of journals have already contributed their pathway information, much of which is novel and extends existing pathway databases into new biological areas. We envision the adoption of Biofactoid for crowdsourced curation by scientists and publishers as part of an ecosystem of tools that accelerate scientific communication and discovery. AvailabilityBiofactoid server at https://biofactoid.org

bioinformatics↗

Exploring the understudied human kinome for research and therapeutic opportunities

The functions of protein kinases have been widely studied and over 60 kinase inhibitors are FDA-approved drugs. Membership in the human kinome is nonetheless subject to multiple overlapping and inconsistent definitions and is unevenly studied, complicating functional genomics and chemical genetics. We describe objective criteria for refining the definition of the human kinome to comprise an extended set of 710 kinase domains and a more narrowly curated set of 557 protein kinase like (PKL) domains. An online tool (www.kinome.org) makes it possible to sort these sets on multiple structural and functional criteria. Focusing on the least studied one-third of the kinome we find that many proteins are differentially expressed, essential in multiple cell lines, and mutated in the Cancer Genome Atlas. We show that some understudied kinases are high affinity off-targets of clinical-grade compounds and approved drugs and we describe an optimized small molecule library making use of this information for selective kinome perturbation. We conclude that the understudied kinome contains physiologically important proteins, including possible targets for future drug discovery campaigns.

systems biology↗

Robustness and parameter geography in post-translational modification systems

Biological systems are acknowledged to be robust to perturbations but a rigorous understanding of this has been elusive. In a mathematical model, perturbations often exert their effect through parameters, so sizes and shapes of parametric regions offer an integrated global estimate of robustness. Here, we explore this "parameter geography" for bistability in post-translational modification (PTM) systems. We use the previously developed "linear framework" for timescale separation to describe the steady-states of a two-site PTM system as the solutions of two polynomial equations in two variables, with eight non-dimensional parameters. Importantly, this approach allows us to accommodate enzyme mechanisms of arbitrary complexity beyond the conventional Michaelis-Menten scheme, which unrealistically forbids product rebinding. We further use the numerical algebraic geometry tools Bertini, Paramotopy, and alphaCertified to statistically assess the solutions to these equations at [~]109 parameter points in total. Subject to sampling limitations, we find no bistability when substrate amount is below a threshold relative to enzyme amounts. As substrate increases, the bistable region acquires 8-dimensional volume which increases in an apparently monotonic and sigmoidal manner towards saturation. The region remains connected but not convex, albeit with a high visibility ratio. Surprisingly, the saturating bistable region occupies a much smaller proportion of the sampling domain under mechanistic assumptions more realistic than the Michaelis-Menten scheme. We find that bistability is compromised by product rebinding and that unrealistic assumptions on enzyme mechanisms have obscured its parametric rarity. The apparent monotonic increase in volume of the bistable region remains perplexing because the region itself does not grow monotonically: parameter points can move back and forth between monostability and bistability. We suggest mathematical conjectures and questions arising from these findings. Advances in theory and software now permit insights into parameter geography to be uncovered by high-dimensional, data-centric analysis. Author SummaryBiological organisms are often said to have robust properties but it is difficult to understand how such robustness arises from molecular interactions. Here, we use a mathematical model to study how the molecular mechanism of protein modification exhibits the property of multiple internal states, which has been suggested to underlie memory and decision making. The robustness of this property is revealed by the size and shape, or "geography," of the parametric region in which the property holds. We use advances in reducing model complexity and in rapidly solving the underlying equations, to extensively sample parameter points in an 8-dimensional space. We find that under realistic molecular assumptions the size of the region is surprisingly small, suggesting that generating multiple internal states with such a mechanism is much harder than expected. While the shape of the region appears straightforward, we find surprising complexity in how the region grows with increasing amounts of the modified substrate. Our approach uses statistical analysis of data generated from a model, rather than from experiments, but leads to precise mathematical conjectures about parameter geography and biological robustness.

systems biology↗

Assembling a corpus of phosphoproteomic annotations using ProtMapper to normalize site information from databases and text mining

Protein phosphorylation regulates numerous cellular processes and is highly studied in biology.However, the analysis of phosphoproteomic datasets remains challenging due to limited information on upstream regulators of phosphosites, which is fragmented across multiple curated databases and unstructured literature. When aggregating information on phosphosites from six databases and three text mining systems, we found that a substantial proportion of phosphosites were mentioned at residue positions not matching the reference sequence. These errors were often attributable to the use of residue numbers from non-canonical protein isoforms, mouse or rat proteins, or post-translationally processed proteins. Non-canonical site numbering is also prevalent in mass spectrometry datasets from large-scale efforts such as the Clinical Proteomic Tumor Analysis Consortium (CPTAC). To address these issues, we developed ProtMapper, an open-source Python tool that automatically normalizes site positions to human protein reference sequences. We used ProtMapper coupled with the INDRA knowledge assembly system to create a corpus of 37,028 regulatory annotations for 16,332 sites - to our knowledge, the most comprehensive corpus of literature-derived information about phosphosite regulation currently available. This work highlights how automated phosphosite normalization coupled to text mining and knowledge assembly allows researchers to leverage phosphosite information that exists within the scientific literature.

bioinformatics↗

GeneWalk identifies relevant gene functions for a biological context using network representation learning

The primary bottleneck in high-throughput genomics experiments is identifying the most important genes and their relevant functions from a list of gene hits. Existing methods such as Gene Ontology (GO) enrichment analysis provide insight at the gene set level. For individual genes, GO annotations are static and biological context can only be added by manual literature searches. Here, we introduce GeneWalk (github.com/churchmanlab/genewalk), a method that identifies individual genes and their relevant functions under a particular experimental condition. After automatic assembly of an experiment-specific gene regulatory network, GeneWalk quantifies the similarity between vector representations of each gene and its GO annotations through representation learning, yielding annotation significance scores that reflect their functional relevance for the experimental context. We demonstrate the use of GeneWalk analysis of RNA-seq and nascent transcriptome (NET-seq) data from human cells and mouse brains, validating the methodology. By performing gene- and condition-specific functional analysis that converts a list of genes into data-driven hypotheses, GeneWalk accelerates the interpretation of high-throughput genetics experiments.

bioinformatics↗

Bioentities: a resource for entity recognition and relationship resolution in biomedical text mining

BackgroundFor automated reading of scientific publications to extract useful information about molecular mechanisms it is critical that genes, proteins and other entities be correctly associated with uniform identifiers, a process known as named entity linking or \"grounding.\" Correct grounding is essential for resolving relationships among mined information, curated interaction databases, and biological datasets. The accuracy of this process is largely dependent on the availability of machine-readable resources associating synonyms and abbreviations commonly found in biomedical literature with uniform identifiers.\n\nResultsIn a task involving automated reading of [~]215,000 articles using the REACH event extraction software we found that grounding was disproportionately inaccurate for multi-protein families (e.g., \"AKT\") and complexes with multiple subunits (e.g.\"NF-{kappa}B\"). To address this problem we constructed FamPlex, a manually curated resource defining protein families and complexes as they are commonly encountered in biomedical text. In FamPlex the gene-level constituents of families and complexes are defined in a flexible format allowing for multi-level, hierarchical membership. To create FamPlex, text strings corresponding to entities were identified empirically from literature and linked manually to uniform identifiers; these identifiers were also mapped to equivalent entries in multiple related databases. FamPlex also includes curated prefix and suffix patterns that improve named entity recognition and event extraction. Evaluation of REACH extractions on a test corpus of [~]54,000 articles showed that FamPlex significantly increased grounding accuracy for families and complexes (from 15% to 71%). The hierarchical organization of entities in FamPlex also made it possible to integrate otherwise unconnected mechanistic information across families, subfamilies, and individual proteins. Applications of FamPlex to the TRIPS/DRUM reading system and the Biocreative VI Bioentity Normalization Task dataset demonstrated the utility of FamPlex in other settings.\n\nConclusionFamPlex is an effective resource for improving named entity recognition, grounding, and relationship resolution in automated reading of biomedical text. The content in FamPlex is available in both tabular and Open Biomedical Ontology formats at https://github.com/sorgerlab/famplex under the Creative Commons CC0 license and has been integrated into the TRIPS/DRUM and REACH reading systems.

bioinformatics↗

From word models to executable models of signaling networks using automated assembly

Word models (natural language descriptions of molecular mechanisms) are a common currency in spoken and written communication in biomedicine but are of limited use in predicting the behavior of complex biological networks. We present an approach to building computational models directly from natural language using automated assembly. Molecular mechanisms described in simple English are read by natural language processing algorithms, converted into an intermediate representation and assembled into executable or network models. We have implemented this approach in the Integrated Network and Dynamical Reasoning Assembler (INDRA), which draws on existing natural language processing systems as well as pathway information in Pathway Commons and other online resources. We demonstrate the use of INDRA and natural language to model three biological processes of increasing scope: (i) p53 dynamics in response to DNA damage; (ii) adaptive drug resistance in BRAF-V600E mutant melanomas; and (iii) the RAS signaling pathway. The use of natural language for modeling makes routine tasks more efficient for modeling practitioners and increases the accessibility and transparency of models for the broader biology community.\n\nStandfirst textINDRA uses natural language processing systems to read descriptions of molecular mechanisms and assembles them into executable models.\n\nHighlightsO_LIINDRA decouples the curation of knowledge as word models from model implementation\nC_LIO_LIINDRA is connected to multiple natural language processing systems and can draw on information from curated databases\nC_LIO_LIINDRA can assemble dynamical models in rule-based and reaction network formalisms, as well as Boolean networks and visualization formats\nC_LIO_LIWe used INDRA to build models of p53 dynamics, resistance to targeted inhibitors of BRAF in melanoma, and the Ras signaling pathway from natural language\nC_LI

systems biology↗