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Developing web apps for analyses of transcriptomes

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Resumo:During my PhD at Instituto de Medicina Molecular João Lobo Antunes (iMM), I developed web apps for transcriptomic data analyses as free, open-source resources and an app server to deploy them. psichomics Alternative pre-mRNA splicing generates functionally distinct transcripts from the same gene and is involved in the control of multiple cellular processes, with its dysregulation being linked to a variety of pathologies. The advent of next-generation sequencing has enabled global studies of alternative splicing in different physiologic and pathologic contexts. However, bioinformatics tools for alternative splicing analysis from RNA-seq data used to be user-unfriendly, disregard available exon-exon junction quantification or have limited downstream analysis features. To overcome such limitations, we developed psichomics, an R package with an intuitive graphical interface for alternative splicing quantification and integrative analyses of alternative splicing and gene expression from large transcriptomic datasets, including those from The Cancer Genome Atlas (TCGA), the Genotype-Tissue Expression (GTEx) project, and the recount2 project, as well as user-provided data. psichomics assists the user in integrating sample-associated features (molecular and clinical) to perform survival, dimensionality reduction, and differential alternative splicing and gene expression analyses. Since its publication in 2018, psichomics has been used to discover splicing-associated prognostic factors and therapeutic targets, along with studying alternative splicing regulation in physiological and pathological contexts. cTRAP The Connectivity Map (CMap) hosts differential expression profiles associated with thousands of genetic and pharmacologic perturbations (perturbagens) of human cells. We developed the cTRAP R package to identify potentially causal molecular perturbations by comparing user-provided differential gene expression results with those from CMap, using correlation and gene set enrichment scores. cTRAP can also compare against gene expression/drug sensitivity associations derived from the NCI-60 cancer cell line panel, the Cancer Therapeutics Response Portal and the Genomics of Drug Sensitivity in Cancer project, to pinpoint compounds that may target the phenotypes associated with the user-provided differential expression profiles. We envisage cTRAP allowing users to identify putative causal perturbations to better understand the molecular mechanisms associated with the observed phenotypes, as well as to predict therapeutic targets. CompBio app server Both psichomics and cTRAP feature graphical interfaces to assist users in exploring most of their functionality. We set up the CompBio app server based on Docker Compose to deploy our lab’s web apps, publicly available at compbio.imm.medicina.ulisboa. pt.
Autores principais:Saraiva-Agostinho, Nuno
Assunto:bioinformática aplicações web splicing alternativo expressão génica perturbações genéticas e farmacológicas bioinformatics web apps alternative splicing gene expression perturbagens
Ano:2023
País:Portugal
Tipo de documento:tese de doutoramento
Tipo de acesso:acesso aberto
Instituição associada:Universidade de Lisboa
Idioma:inglês
Origem:Repositório da Universidade de Lisboa
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author Saraiva-Agostinho, Nuno
author_facet Saraiva-Agostinho, Nuno
author_role author
contributor_name_str_mv Morais, Nuno Luís Barbosa
Almeida, Sérgio Alexandre Fernandes de
Repositório Científico de Acesso Aberto da ULisboa
country_str PT
creators_json_txt [{\"Person.name\":\"Saraiva-Agostinho, Nuno\",\"Person.identifier.orcid\":\"0000-0002-5549-105X\"}]
datacite.contributors.contributor.contributorName.fl_str_mv Morais, Nuno Luís Barbosa
Almeida, Sérgio Alexandre Fernandes de
Repositório Científico de Acesso Aberto da ULisboa
datacite.creators.creator.creatorName.fl_str_mv Saraiva-Agostinho, Nuno
datacite.date.Accepted.fl_str_mv 2023-05-01T00:00:00Z
datacite.date.available.fl_str_mv 2024-03-22T18:04:41Z
datacite.date.embargoed.fl_str_mv 2024-03-22T18:04:41Z
datacite.rights.fl_str_mv http://purl.org/coar/access_right/c_abf2
datacite.subjects.subject.fl_str_mv bioinformática
aplicações web
splicing alternativo
expressão génica
perturbações genéticas e farmacológicas
bioinformatics
web apps
alternative splicing
gene expression
perturbagens
datacite.titles.title.fl_str_mv Developing web apps for analyses of transcriptomes
dc.contributor.none.fl_str_mv Morais, Nuno Luís Barbosa
Almeida, Sérgio Alexandre Fernandes de
Repositório Científico de Acesso Aberto da ULisboa
dc.creator.none.fl_str_mv Saraiva-Agostinho, Nuno
dc.date.Accepted.fl_str_mv 2023-05-01T00:00:00Z
dc.date.available.fl_str_mv 2024-03-22T18:04:41Z
dc.date.embargoed.fl_str_mv 2024-03-22T18:04:41Z
dc.format.none.fl_str_mv application/pdf
dc.identifier.none.fl_str_mv http://hdl.handle.net/10451/63710
dc.language.none.fl_str_mv eng
dc.rights.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.subject.none.fl_str_mv bioinformática
aplicações web
splicing alternativo
expressão génica
perturbações genéticas e farmacológicas
bioinformatics
web apps
alternative splicing
gene expression
perturbagens
dc.title.fl_str_mv Developing web apps for analyses of transcriptomes
dc.type.none.fl_str_mv http://purl.org/coar/resource_type/c_db06
description During my PhD at Instituto de Medicina Molecular João Lobo Antunes (iMM), I developed web apps for transcriptomic data analyses as free, open-source resources and an app server to deploy them. psichomics Alternative pre-mRNA splicing generates functionally distinct transcripts from the same gene and is involved in the control of multiple cellular processes, with its dysregulation being linked to a variety of pathologies. The advent of next-generation sequencing has enabled global studies of alternative splicing in different physiologic and pathologic contexts. However, bioinformatics tools for alternative splicing analysis from RNA-seq data used to be user-unfriendly, disregard available exon-exon junction quantification or have limited downstream analysis features. To overcome such limitations, we developed psichomics, an R package with an intuitive graphical interface for alternative splicing quantification and integrative analyses of alternative splicing and gene expression from large transcriptomic datasets, including those from The Cancer Genome Atlas (TCGA), the Genotype-Tissue Expression (GTEx) project, and the recount2 project, as well as user-provided data. psichomics assists the user in integrating sample-associated features (molecular and clinical) to perform survival, dimensionality reduction, and differential alternative splicing and gene expression analyses. Since its publication in 2018, psichomics has been used to discover splicing-associated prognostic factors and therapeutic targets, along with studying alternative splicing regulation in physiological and pathological contexts. cTRAP The Connectivity Map (CMap) hosts differential expression profiles associated with thousands of genetic and pharmacologic perturbations (perturbagens) of human cells. We developed the cTRAP R package to identify potentially causal molecular perturbations by comparing user-provided differential gene expression results with those from CMap, using correlation and gene set enrichment scores. cTRAP can also compare against gene expression/drug sensitivity associations derived from the NCI-60 cancer cell line panel, the Cancer Therapeutics Response Portal and the Genomics of Drug Sensitivity in Cancer project, to pinpoint compounds that may target the phenotypes associated with the user-provided differential expression profiles. We envisage cTRAP allowing users to identify putative causal perturbations to better understand the molecular mechanisms associated with the observed phenotypes, as well as to predict therapeutic targets. CompBio app server Both psichomics and cTRAP feature graphical interfaces to assist users in exploring most of their functionality. We set up the CompBio app server based on Docker Compose to deploy our lab’s web apps, publicly available at compbio.imm.medicina.ulisboa. pt.
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funding.funder.alternateName_str_mv FCT
funding.funder.identifier_str_mv http://doi.org/10.13039/501100001871
funding.funder.name_str_mv Fundação para a Ciência e a Tecnologia
id ul_11f802d9f49a19afebe09b5723b4e4e4
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person_str_mv Saraiva-Agostinho, Nuno
Saraiva-Agostinho, Nuno
https://www.ciencia-id.pt/0315-C8C7-6978
0315-C8C7-6978
http://orcid.org/0000-0002-5549-105X
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spelling engpt_PTDuring my PhD at Instituto de Medicina Molecular João Lobo Antunes (iMM), I developed web apps for transcriptomic data analyses as free, open-source resources and an app server to deploy them. psichomics Alternative pre-mRNA splicing generates functionally distinct transcripts from the same gene and is involved in the control of multiple cellular processes, with its dysregulation being linked to a variety of pathologies. The advent of next-generation sequencing has enabled global studies of alternative splicing in different physiologic and pathologic contexts. However, bioinformatics tools for alternative splicing analysis from RNA-seq data used to be user-unfriendly, disregard available exon-exon junction quantification or have limited downstream analysis features. To overcome such limitations, we developed psichomics, an R package with an intuitive graphical interface for alternative splicing quantification and integrative analyses of alternative splicing and gene expression from large transcriptomic datasets, including those from The Cancer Genome Atlas (TCGA), the Genotype-Tissue Expression (GTEx) project, and the recount2 project, as well as user-provided data. psichomics assists the user in integrating sample-associated features (molecular and clinical) to perform survival, dimensionality reduction, and differential alternative splicing and gene expression analyses. Since its publication in 2018, psichomics has been used to discover splicing-associated prognostic factors and therapeutic targets, along with studying alternative splicing regulation in physiological and pathological contexts. cTRAP The Connectivity Map (CMap) hosts differential expression profiles associated with thousands of genetic and pharmacologic perturbations (perturbagens) of human cells. We developed the cTRAP R package to identify potentially causal molecular perturbations by comparing user-provided differential gene expression results with those from CMap, using correlation and gene set enrichment scores. cTRAP can also compare against gene expression/drug sensitivity associations derived from the NCI-60 cancer cell line panel, the Cancer Therapeutics Response Portal and the Genomics of Drug Sensitivity in Cancer project, to pinpoint compounds that may target the phenotypes associated with the user-provided differential expression profiles. We envisage cTRAP allowing users to identify putative causal perturbations to better understand the molecular mechanisms associated with the observed phenotypes, as well as to predict therapeutic targets. CompBio app server Both psichomics and cTRAP feature graphical interfaces to assist users in exploring most of their functionality. We set up the CompBio app server based on Docker Compose to deploy our lab’s web apps, publicly available at compbio.imm.medicina.ulisboa. pt.application/pdfpt_PTDeveloping web apps for analyses of transcriptomesPersonalSaraiva-Agostinho, NunoDSpacehttp://dspace.org/items/4a9bab13-a38b-46f6-ba3d-879e797ad7c5DSpacehttp://dspace.org/items/4a9bab13-a38b-46f6-ba3d-879e797ad7c5Saraiva AgostinhoNuno DanielCiência IDhttps://www.ciencia-id.pt0315-C8C7-6978ORCIDhttp://orcid.org0000-0002-5549-105XResearcher IDhttps://www.researcherid.comD-4411-2017Researcher IDhttps://www.researcherid.comF-5516-2011Scopus Author IDhttps://www.scopus.com57193712430Morais, Nuno Luís BarbosaAlmeida, Sérgio Alexandre Fernandes deHostingInstitutionOrganizationalRepositório Científico de Acesso Aberto da ULisboae-mailmailto:repositorio@reitoria.ulisboa.ptrepositorio@reitoria.ulisboa.ptURNurn:tid:1015749592024-03-22T18:04:41Z2023-052023-022023-05-01T00:00:00ZHandlehttp://hdl.handle.net/10451/63710http://purl.org/coar/access_right/c_abf2open accessbioinformáticaaplicações websplicing alternativoexpressão génicaperturbações genéticas e farmacológicasbioinformaticsweb appsalternative splicinggene expressionperturbagens25558284 bytesFundação para a Ciência e a TecnologiaRevolving around circular RNAs: computational exploration of their biogenesis and functionsCrossref Funder IDhttp://doi.org/10.13039/501100001871literaturehttp://purl.org/coar/resource_type/c_db06doctoral thesishttp://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://repositorio.ulisboa.pt/bitstreams/a9f09676-b06b-479f-bb5e-d2437e9f3cd0/download
spellingShingle Developing web apps for analyses of transcriptomes
Saraiva-Agostinho, Nuno
bioinformática
aplicações web
splicing alternativo
expressão génica
perturbações genéticas e farmacológicas
bioinformatics
web apps
alternative splicing
gene expression
perturbagens
status SINGLETON
subject.fl_str_mv bioinformática
aplicações web
splicing alternativo
expressão génica
perturbações genéticas e farmacológicas
bioinformatics
web apps
alternative splicing
gene expression
perturbagens
title Developing web apps for analyses of transcriptomes
title_full Developing web apps for analyses of transcriptomes
title_fullStr Developing web apps for analyses of transcriptomes
title_full_unstemmed Developing web apps for analyses of transcriptomes
title_short Developing web apps for analyses of transcriptomes
title_sort Developing web apps for analyses of transcriptomes
topic bioinformática
aplicações web
splicing alternativo
expressão génica
perturbações genéticas e farmacológicas
bioinformatics
web apps
alternative splicing
gene expression
perturbagens
topic_facet bioinformática
aplicações web
splicing alternativo
expressão génica
perturbações genéticas e farmacológicas
bioinformatics
web apps
alternative splicing
gene expression
perturbagens
url http://hdl.handle.net/10451/63710
visible 1