Aequatus-vis, a plugin to visualise homologous gene familiesAnil Thanki
aequatus-vis is a plugin to visualise homologous genes through alignment and phylogeny information. It preserves interactive functionality of Aequatus Browser however enhanced usability and ability to integration with countless applications, like to visualise homologous genes fetched by Ensembl REST API, and likewise visualise homologous gene family discovered using Ensembl GeneFamily pipeline in Galaxy.
Source-code: https://github.com/TGAC/aequatus-vis
Case Study in Linked Data and Semantic Web: Human GenomeDavid Portnoy
The National Human Genome Research Institute's "GWAS Catalog" (Genome-Wide Association Studies) project is a successful implementation of Linked Data (http://linkeddata.org/) and Semantic Web (http://www.w3.org/standards/semanticweb/) concepts. This deck discusses how this project has been implemented, challenges faced and possible paths for the future.
Gramene is a resource for plant comparative genomics based on Ensembl technology. It includes exploration of genome features, functional ontologies, variation data and comparative phylogenomics. Two main frameworks are included in genomes (collaboration with Ensembl Plants) and pathways (The Plant Reactome and archival BioCyc databases).
Apollo and i5K: Collaborative Curation and Interactive Analysis of GenomesMonica Munoz-Torres
Precise elucidation of the many different biological features encoded in a genome requires a careful curation process that involves reviewing all available evidence to allow researchers to resolve discrepancies and validate automated gene models, protein alignments, and other biological elements. Genome annotation is an inherently collaborative task; researchers only rarely work in isolation, turning to colleagues for second opinions and insights from those with expertise in particular domains and gene families.
The i5k initiative seeks to sequence the genomes of 5,000 insect and related arthropod species. The selected species are known to be important to worldwide agriculture, food safety, medicine, and energy production as well as many used as models in biology, those most abundant in world ecosystems, and representatives in every branch of the insect phylogeny in an effort to better understand arthropod evolution and phylogeny. Because computational genome analysis remains an imperfect art, each of these new genomes sequenced will require visualization and curation.
Apollo is an instantaneous, collaborative, genome annotation editor, and the new JavaScript based version allows researchers real-time interactivity, breaking down large amounts of data into manageable portions to mobilize groups of researchers with shared interests. The i5K is a broad and inclusive effort that seeks to involve scientists from around the world in their genome curation process and Apollo is serving as the platform to empower this community. Here we offer details about this collaboration.
Event: Plant and Animal Genomes conference 2012
Speaker: Sandra Orchard
InterPro is an open-source protein resource used for the automatic annotation of proteins, and is scalable to the analysis of entire new genomes through the use of a downloadable version of InterProScan, which can be incorporated into an existing local pipeline. InterPro integrates protein signatures from 11 major signature databases (CATH-Gene3D, HAMAP, PANTHER, Pfam, PIRSF, PRINTS, ProDom, PROSITE, SMART, SUPERFAMILY, and TIGRFAMs) into a single resource, taking advantage of the different areas of specialization of each to produce a resource that provides protein classification on multiple levels: protein families, structural superfamilies and functionally close subfamilies, as well as functional domains, repeats and important sites. The InterPro website has been improved, following extensive community consultation and a new version of InterProScan promises improved speed, ease of implementation as well as additional functionalities.
Event: Plant and Animal Genomes conference 2012
Speaker: Rachael Huntley
The Gene Ontology (GO) is a well-established, structured vocabulary used in the functional annotation of gene products. GO terms are used to replace the multiple nomenclatures used by scientific databases that can hamper data integration. Currently, GO consists of more than 35,000 terms describing the molecular function, biological process and subcellular location of a gene product in a generic cell. The UniProt-Gene Ontology Annotation (UniProt-GOA) database1 provides high-quality manual and electronic GO annotations to proteins within UniProt. By annotating well-studied proteins with GO terms and transferring this knowledge to less well-studied and novel proteins that are highly similar, we offer a valuable contribution to the understanding of all proteomes. UniProt-GOA provides annotated entries for over 387,000 species and is the largest and most comprehensive open-source contributor of annotations to the GO Consortium annotation effort. Annotation files for various proteomes are released each month, including human, mouse, rat, zebrafish, cow, chicken, dog, pig, Arabidopsis and Dictyostelium, as well as a file for the multiple species within UniProt. The UniProt-GOA dataset can be queried through our user-friendly QuickGO browser2 or downloaded in a parsable format via the EBI3 and GO Consortium FTP4 sites. The UniProt-GOA dataset has increasingly been integrated into tools that aid in the analysis of large datasets resulting from high-throughput experiments thus assisting researchers in biological interpretation of their results. The annotations produced by UniProt-GOA are additionally cross-referenced in databases such as Ensembl and NCBI Entrez Gene.
1 http://www.ebi.ac.uk/GOA
2 http://www.ebi.ac.uk/QuickGO
3 ftp://ftp.ebi.ac.uk/pub/databases/GO/goa
4 ftp://ftp.geneontology.org/pub/go/gene-associations
Data integration is intrinsic to how modern research is undertaken in areas such as genomics, drug development and personalised medicine. To better enable this integration a large number of biomedical ontologies have been developed to provide standard semantics for describing metadata. There are now several hundred biomedical ontologies in widespread use that describe concepts such as genes, molecules, drugs and diseases. This amounts to millions of terms that are interconnected via relationships that naturally form a graph of biomedical terminology.
The Ontology Lookup Service (OLS) (http://www.ebi.ac.uk/ols) integrates over 160 ontologies and provide a central point for the biomedical community to query and visualise ontologies. OLS also provide a RESTful API over the ontologies that is used in high-throughput data annotation pipelines. OLS is built on top of a Neo4j database that provides efficient indexes for extracting ontological relationships. We have developed generic tools for loading RDF/OWL ontologies into Neo4j where the indexes are optimised for serving common ontology queries. We are now moving to adopt graph database more widely in applications relating to ontology mapping prediction and recommendation systems for data annotation.
Aequatus-vis, a plugin to visualise homologous gene familiesAnil Thanki
aequatus-vis is a plugin to visualise homologous genes through alignment and phylogeny information. It preserves interactive functionality of Aequatus Browser however enhanced usability and ability to integration with countless applications, like to visualise homologous genes fetched by Ensembl REST API, and likewise visualise homologous gene family discovered using Ensembl GeneFamily pipeline in Galaxy.
Source-code: https://github.com/TGAC/aequatus-vis
Case Study in Linked Data and Semantic Web: Human GenomeDavid Portnoy
The National Human Genome Research Institute's "GWAS Catalog" (Genome-Wide Association Studies) project is a successful implementation of Linked Data (http://linkeddata.org/) and Semantic Web (http://www.w3.org/standards/semanticweb/) concepts. This deck discusses how this project has been implemented, challenges faced and possible paths for the future.
Gramene is a resource for plant comparative genomics based on Ensembl technology. It includes exploration of genome features, functional ontologies, variation data and comparative phylogenomics. Two main frameworks are included in genomes (collaboration with Ensembl Plants) and pathways (The Plant Reactome and archival BioCyc databases).
Apollo and i5K: Collaborative Curation and Interactive Analysis of GenomesMonica Munoz-Torres
Precise elucidation of the many different biological features encoded in a genome requires a careful curation process that involves reviewing all available evidence to allow researchers to resolve discrepancies and validate automated gene models, protein alignments, and other biological elements. Genome annotation is an inherently collaborative task; researchers only rarely work in isolation, turning to colleagues for second opinions and insights from those with expertise in particular domains and gene families.
The i5k initiative seeks to sequence the genomes of 5,000 insect and related arthropod species. The selected species are known to be important to worldwide agriculture, food safety, medicine, and energy production as well as many used as models in biology, those most abundant in world ecosystems, and representatives in every branch of the insect phylogeny in an effort to better understand arthropod evolution and phylogeny. Because computational genome analysis remains an imperfect art, each of these new genomes sequenced will require visualization and curation.
Apollo is an instantaneous, collaborative, genome annotation editor, and the new JavaScript based version allows researchers real-time interactivity, breaking down large amounts of data into manageable portions to mobilize groups of researchers with shared interests. The i5K is a broad and inclusive effort that seeks to involve scientists from around the world in their genome curation process and Apollo is serving as the platform to empower this community. Here we offer details about this collaboration.
Event: Plant and Animal Genomes conference 2012
Speaker: Sandra Orchard
InterPro is an open-source protein resource used for the automatic annotation of proteins, and is scalable to the analysis of entire new genomes through the use of a downloadable version of InterProScan, which can be incorporated into an existing local pipeline. InterPro integrates protein signatures from 11 major signature databases (CATH-Gene3D, HAMAP, PANTHER, Pfam, PIRSF, PRINTS, ProDom, PROSITE, SMART, SUPERFAMILY, and TIGRFAMs) into a single resource, taking advantage of the different areas of specialization of each to produce a resource that provides protein classification on multiple levels: protein families, structural superfamilies and functionally close subfamilies, as well as functional domains, repeats and important sites. The InterPro website has been improved, following extensive community consultation and a new version of InterProScan promises improved speed, ease of implementation as well as additional functionalities.
Event: Plant and Animal Genomes conference 2012
Speaker: Rachael Huntley
The Gene Ontology (GO) is a well-established, structured vocabulary used in the functional annotation of gene products. GO terms are used to replace the multiple nomenclatures used by scientific databases that can hamper data integration. Currently, GO consists of more than 35,000 terms describing the molecular function, biological process and subcellular location of a gene product in a generic cell. The UniProt-Gene Ontology Annotation (UniProt-GOA) database1 provides high-quality manual and electronic GO annotations to proteins within UniProt. By annotating well-studied proteins with GO terms and transferring this knowledge to less well-studied and novel proteins that are highly similar, we offer a valuable contribution to the understanding of all proteomes. UniProt-GOA provides annotated entries for over 387,000 species and is the largest and most comprehensive open-source contributor of annotations to the GO Consortium annotation effort. Annotation files for various proteomes are released each month, including human, mouse, rat, zebrafish, cow, chicken, dog, pig, Arabidopsis and Dictyostelium, as well as a file for the multiple species within UniProt. The UniProt-GOA dataset can be queried through our user-friendly QuickGO browser2 or downloaded in a parsable format via the EBI3 and GO Consortium FTP4 sites. The UniProt-GOA dataset has increasingly been integrated into tools that aid in the analysis of large datasets resulting from high-throughput experiments thus assisting researchers in biological interpretation of their results. The annotations produced by UniProt-GOA are additionally cross-referenced in databases such as Ensembl and NCBI Entrez Gene.
1 http://www.ebi.ac.uk/GOA
2 http://www.ebi.ac.uk/QuickGO
3 ftp://ftp.ebi.ac.uk/pub/databases/GO/goa
4 ftp://ftp.geneontology.org/pub/go/gene-associations
Data integration is intrinsic to how modern research is undertaken in areas such as genomics, drug development and personalised medicine. To better enable this integration a large number of biomedical ontologies have been developed to provide standard semantics for describing metadata. There are now several hundred biomedical ontologies in widespread use that describe concepts such as genes, molecules, drugs and diseases. This amounts to millions of terms that are interconnected via relationships that naturally form a graph of biomedical terminology.
The Ontology Lookup Service (OLS) (http://www.ebi.ac.uk/ols) integrates over 160 ontologies and provide a central point for the biomedical community to query and visualise ontologies. OLS also provide a RESTful API over the ontologies that is used in high-throughput data annotation pipelines. OLS is built on top of a Neo4j database that provides efficient indexes for extracting ontological relationships. We have developed generic tools for loading RDF/OWL ontologies into Neo4j where the indexes are optimised for serving common ontology queries. We are now moving to adopt graph database more widely in applications relating to ontology mapping prediction and recommendation systems for data annotation.
Connecting life sciences data at the European Bioinformatics InstituteConnected Data World
Tony Burdett's slides from his talk at Connected Data London. Tony is a Senior Software Engineer at The European Bioinformatics Institute. He presented the complexity of data at the EMBL-EBI and what is their solution to make sense of all this data.
This presentation is a thorough guide to the use of Web Apollo, with details on User Navigation, Functionality, and the thought process behind manual annotation.
During this workshop, participants:
- Learn to identify homologs of known genes of interest in your newly sequenced genome.
- Become familiar with the environment and functionality of the Web Apollo genome annotation editing tool.
- Learn how to corroborate or modify automatically annotated gene models using all available evidence in Web Apollo.
- Understand the process of curation in the context of genome annotation.
Open interoperability standards, tools and services at EMBL-EBIPistoia Alliance
In this webinar Dr Henriette Harmse from EMBL-EBI presents how they are using their ontology services at EMBL-EBI to scale up the annotation of data and deliver added value through ontologies and semantics to their users.
Introduction to Web Apollo for the i5K Pilot species project. WebApollo is genome annotation editor; it provides a web-based environment that allows multiple distributed users to review, edit, and share manual annotations. Let's get started!
Precise elucidation of the many different biological features encoded in any genome requires careful examination and review by researchers, who gather and evaluate the available evidence to corroborate and modify gene predictions and other biological elements. This curation process allows them to resolve discrepancies and validate automated gene model hypotheses and alignments. This approach is the well-established practice for well-known genomes such as human, mouse, zebrafish, Drosophila, et cetera. Desktop Apollo was originally developed to meet these needs.
The cost of sequencing a genome has been dramatically reduced by several orders of magnitude in the last decade, and the natural consequence is that more and more researchers are sequencing more and more new genomes, both within populations and across species. Because individual researchers can now readily sequence many genomes of interest, the need for a universally accessible genomic curation tool logically follows. Each new exome or genome sequenced requires visualization and curation to obtain biologically accurate genomic features sets, even for limited set of genes, because computational genome analysis remains an imperfect art. Additionally, unlike earlier genome projects, which had the advantage of more highly polished genomes, recent projects usually have lower coverage. Therefore researchers now face additional work correcting for more frequent assembly errors and annotating genes split across multiple contigs.
Genome annotation is an inherently collaborative task; researchers only very rarely work in isolation, turning to colleagues for second opinions and insights from those with with expertise in particular domains and gene families. The new JavaScript based Apollo, allows researchers real-time interactivity, breaking down large amounts of data into manageable portions to mobilize groups of researchers with shared interests. We are also focused on training the next generation of researchers by reaching out to educators to make these tools available as part of curricula via workshops and webinars, and through widely applied systems such as iPlant and DNA Subway. Here we offer details of our progress.
Presentation at Genome Informatics, Session (3) on Databases, Data Mining, Visualization, Ontologies and Curation.
Authors: Monica C Munoz-Torres, Suzanna E. Lewis, Ian Holmes, Colin Diesh, Deepak Unni, Christine Elsik.
Facilitating semantic alignment of EMBL-EBI services using ontologies and semantic web technology. Presentation at the BioHackathon Symposium 2016, Japan.
Web Apollo Tutorial for the i5K copepod research community.Monica Munoz-Torres
Introduction to Web Apollo for the i5K i5K copepod research community. WebApollo is genome annotation editor; it provides a web-based environment that allows multiple distributed users to review, edit, and share manual annotations. This presentation includes information specific to the projects of the Global Initiative to sequence the genomes of 5,000 species of arthropods, i5K. Let's get started!
IDW2022: A decades experiences in transparent and interactive publication of ...GigaScience, BGI Hong Kong
Scott Edmunds at International Data Week 2022: A decades experiences in transparent and interactive publication of FAIR data and software via an end-to-end XML publishing platform. 21st June 2022
GigaByte Chief Editor Scott Edmunds presents on how to prepare a data paper for the TDR and WHO sponsored call for data papers describing datasets on vectors of human diseases launched in Nov 2021. Presented at the GBIF webinar on 25th January 2022 and aimed at authors interested in submitting a manuscript submitted to the series.
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Connecting life sciences data at the European Bioinformatics InstituteConnected Data World
Tony Burdett's slides from his talk at Connected Data London. Tony is a Senior Software Engineer at The European Bioinformatics Institute. He presented the complexity of data at the EMBL-EBI and what is their solution to make sense of all this data.
This presentation is a thorough guide to the use of Web Apollo, with details on User Navigation, Functionality, and the thought process behind manual annotation.
During this workshop, participants:
- Learn to identify homologs of known genes of interest in your newly sequenced genome.
- Become familiar with the environment and functionality of the Web Apollo genome annotation editing tool.
- Learn how to corroborate or modify automatically annotated gene models using all available evidence in Web Apollo.
- Understand the process of curation in the context of genome annotation.
Open interoperability standards, tools and services at EMBL-EBIPistoia Alliance
In this webinar Dr Henriette Harmse from EMBL-EBI presents how they are using their ontology services at EMBL-EBI to scale up the annotation of data and deliver added value through ontologies and semantics to their users.
Introduction to Web Apollo for the i5K Pilot species project. WebApollo is genome annotation editor; it provides a web-based environment that allows multiple distributed users to review, edit, and share manual annotations. Let's get started!
Precise elucidation of the many different biological features encoded in any genome requires careful examination and review by researchers, who gather and evaluate the available evidence to corroborate and modify gene predictions and other biological elements. This curation process allows them to resolve discrepancies and validate automated gene model hypotheses and alignments. This approach is the well-established practice for well-known genomes such as human, mouse, zebrafish, Drosophila, et cetera. Desktop Apollo was originally developed to meet these needs.
The cost of sequencing a genome has been dramatically reduced by several orders of magnitude in the last decade, and the natural consequence is that more and more researchers are sequencing more and more new genomes, both within populations and across species. Because individual researchers can now readily sequence many genomes of interest, the need for a universally accessible genomic curation tool logically follows. Each new exome or genome sequenced requires visualization and curation to obtain biologically accurate genomic features sets, even for limited set of genes, because computational genome analysis remains an imperfect art. Additionally, unlike earlier genome projects, which had the advantage of more highly polished genomes, recent projects usually have lower coverage. Therefore researchers now face additional work correcting for more frequent assembly errors and annotating genes split across multiple contigs.
Genome annotation is an inherently collaborative task; researchers only very rarely work in isolation, turning to colleagues for second opinions and insights from those with with expertise in particular domains and gene families. The new JavaScript based Apollo, allows researchers real-time interactivity, breaking down large amounts of data into manageable portions to mobilize groups of researchers with shared interests. We are also focused on training the next generation of researchers by reaching out to educators to make these tools available as part of curricula via workshops and webinars, and through widely applied systems such as iPlant and DNA Subway. Here we offer details of our progress.
Presentation at Genome Informatics, Session (3) on Databases, Data Mining, Visualization, Ontologies and Curation.
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Facilitating semantic alignment of EMBL-EBI services using ontologies and semantic web technology. Presentation at the BioHackathon Symposium 2016, Japan.
Web Apollo Tutorial for the i5K copepod research community.Monica Munoz-Torres
Introduction to Web Apollo for the i5K i5K copepod research community. WebApollo is genome annotation editor; it provides a web-based environment that allows multiple distributed users to review, edit, and share manual annotations. This presentation includes information specific to the projects of the Global Initiative to sequence the genomes of 5,000 species of arthropods, i5K. Let's get started!
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Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
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In this talk, I will discuss our work in (1) building an integrative knowledge infrastructure to prepare FAIR and "AI-ready" data and services along with (2) neurosymbolic AI methods to improve the quality of predictions and to generate plausible explanations. Attention is given to standards, platforms, and methods to wrangle knowledge into simple, but effective semantic and latent representations, and to make these available into standards-compliant and discoverable interfaces that can be used in model building, validation, and explanation. Our work, and those of others in the field, creates a baseline for building trustworthy and easy to deploy AI models in biomedicine.
Bio
Dr. Michel Dumontier is the Distinguished Professor of Data Science at Maastricht University, founder and executive director of the Institute of Data Science, and co-founder of the FAIR (Findable, Accessible, Interoperable and Reusable) data principles. His research explores socio-technological approaches for responsible discovery science, which includes collaborative multi-modal knowledge graphs, privacy-preserving distributed data mining, and AI methods for drug discovery and personalized medicine. His work is supported through the Dutch National Research Agenda, the Netherlands Organisation for Scientific Research, Horizon Europe, the European Open Science Cloud, the US National Institutes of Health, and a Marie-Curie Innovative Training Network. He is the editor-in-chief for the journal Data Science and is internationally recognized for his contributions in bioinformatics, biomedical informatics, and semantic technologies including ontologies and linked data.
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Homology
• Homology is existence of shared ancestry between a pair of structures
in different species.
–i.e. genes
• The phylogenetic information inferred from the study of homologous
genes
–helps us to understand the evolution of gene families.
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Homology
• Various tools available to visualise homology
–Ensembl
–Genomicus
–SynChro
• They provide an overview of phylogeny and/or syntenic regions
evolution at the family level
• They can not provide information about structural changes within a
gene
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Aequatus
• New open-source tool for visualisation of homologous genes
• Reads data directly from Ensembl Compara and Ensembl Core
Databases
• Three main views
1. Gene tree view
2. Sankey view
3. Tabular view
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Aequatus - Gene tree view
• Phylogeny on left
• Detailed view of gene structure across gene families
• Shared exons use the same colour in each representation
• Also visualises Insertions and Deletions
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Aequatus - Gene tree view
• Depicts the type of interrelation events that gave rise to the family:
–speciation, duplication, and gene splits
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• 1-to-1 alignments between homologous genes are important for
pairwise comparison
• On the top (A): alignment on gene structure
• On the bottom (B): pairwise sequence alignments
Aequatus - Gene tree view
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Aequatus - Gene tree view
• An interactive visualisation of the protein domains.
• Connects to SMART web server via REST API and queries for domains,
motifs, internal repeats, etc.
• Can be filtered and sorted based on E-value and source.
• Can be exported in CSV or Excel file format.
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Aequatus - Sankey view
• Visualises homology as an interactive Sankey diagram
• Homologues of a selected gene are distinguished by homology type
–paralogs, 1-to-1 orthologs, 1-to-many orthologs
• Coloured by species
• Additional details for the homologous in the info panel on the right-
hand side.
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Aequatus - Tabular view
• Visualises homology as an interactive table
• Contains statistical information for the homologous relationships.
• Allows the user to
–search for any homolog using a search box
–filter results for the type of homology or one or more species
• Export from the tabular view as Excel, CSV or PDF.
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Aequatus - Tabular view
D = Filter based on Species
E = Filter based on Type of homology
A = Search Box
B = Detailed statistical information
C = Detailed pairwise alignment
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Aequatus.js
• Aequatus.js is a JavaScript library based on the standalone Aequatus
software package
• It preserves interactive functionality of Aequatus
• Does not require Ensembl databases for data
• It has an ability to integration with countless web based applications
• Gene Tree
–JSON / Newick
• Gene structural info
–JSON
Input
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Galaxy and GeneSeqToFamily
• Galaxy is an open source, web-based platform for data intensive
biomedical research.
• Aequatus.js plugin configured to be used into Galaxy
–available on GitHub and integrated into usegalaxy.eu
• Can visualises results of GeneSeqToFamily workflow
–a Galaxy workflow to find gene families based on the Ensembl
Compara GeneTrees pipeline
–https://doi.org/10.1093/gigascience/giy005
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New stuff...
• The main extension to the Aequatus is incorporation of Ensembl REST
API.
• Aequatus can also retrieve latest data directly from Ensembl Compara
and Core databases held at the EMBL-EBI,
– without any need for local databases
– avoids the need for local storage space
– improves the portability of Aequatus