Showing 157 of total 157 results (show query)

bioc

Moonlight2R:Identify oncogenes and tumor suppressor genes from omics data

The understanding of cancer mechanism requires the identification of genes playing a role in the development of the pathology and the characterization of their role (notably oncogenes and tumor suppressors). We present an updated version of the R/bioconductor package called MoonlightR, namely Moonlight2R, which returns a list of candidate driver genes for specific cancer types on the basis of omics data integration. The Moonlight framework contains a primary layer where gene expression data and information about biological processes are integrated to predict genes called oncogenic mediators, divided into putative tumor suppressors and putative oncogenes. This is done through functional enrichment analyses, gene regulatory networks and upstream regulator analyses to score the importance of well-known biological processes with respect to the studied cancer type. By evaluating the effect of the oncogenic mediators on biological processes or through random forests, the primary layer predicts two putative roles for the oncogenic mediators: i) tumor suppressor genes (TSGs) and ii) oncogenes (OCGs). As gene expression data alone is not enough to explain the deregulation of the genes, a second layer of evidence is needed. We have automated the integration of a secondary mutational layer through new functionalities in Moonlight2R. These functionalities analyze mutations in the cancer cohort and classifies these into driver and passenger mutations using the driver mutation prediction tool, CScape-somatic. Those oncogenic mediators with at least one driver mutation are retained as the driver genes. As a consequence, this methodology does not only identify genes playing a dual role (e.g. TSG in one cancer type and OCG in another) but also helps in elucidating the biological processes underlying their specific roles. In particular, Moonlight2R can be used to discover OCGs and TSGs in the same cancer type. This may for instance help in answering the question whether some genes change role between early stages (I, II) and late stages (III, IV). In the future, this analysis could be useful to determine the causes of different resistances to chemotherapeutic treatments. An additional mechanistic layer evaluates if there are mutations affecting the protein stability of the transcription factors (TFs) of the TSGs and OCGs, as that may have an effect on the expression of the genes.

Maintained by Matteo Tiberti. Last updated 2 months ago.

dnamethylationdifferentialmethylationgeneregulationgeneexpressionmethylationarraydifferentialexpressionpathwaysnetworksurvivalgenesetenrichmentnetworkenrichment

11.6 match 5 stars 6.59 score 43 scripts

bioc

MoonlightR:Identify oncogenes and tumor suppressor genes from omics data

Motivation: The understanding of cancer mechanism requires the identification of genes playing a role in the development of the pathology and the characterization of their role (notably oncogenes and tumor suppressors). Results: We present an R/bioconductor package called MoonlightR which returns a list of candidate driver genes for specific cancer types on the basis of TCGA expression data. The method first infers gene regulatory networks and then carries out a functional enrichment analysis (FEA) (implementing an upstream regulator analysis, URA) to score the importance of well-known biological processes with respect to the studied cancer type. Eventually, by means of random forests, MoonlightR predicts two specific roles for the candidate driver genes: i) tumor suppressor genes (TSGs) and ii) oncogenes (OCGs). As a consequence, this methodology does not only identify genes playing a dual role (e.g. TSG in one cancer type and OCG in another) but also helps in elucidating the biological processes underlying their specific roles. In particular, MoonlightR can be used to discover OCGs and TSGs in the same cancer type. This may help in answering the question whether some genes change role between early stages (I, II) and late stages (III, IV) in breast cancer. In the future, this analysis could be useful to determine the causes of different resistances to chemotherapeutic treatments.

Maintained by Matteo Tiberti. Last updated 5 months ago.

dnamethylationdifferentialmethylationgeneregulationgeneexpressionmethylationarraydifferentialexpressionpathwaysnetworksurvivalgenesetenrichmentnetworkenrichment

7.1 match 17 stars 6.57 score

bioc

ROntoTools:R Onto-Tools suite

Suite of tools for functional analysis.

Maintained by Sorin Draghici. Last updated 5 months ago.

networkanalysismicroarraygraphsandnetworks

6.1 match 5.10 score 15 scripts 2 dependents

bioc

groHMM:GRO-seq Analysis Pipeline

A pipeline for the analysis of GRO-seq data.

Maintained by Tulip Nandu. Last updated 2 days ago.

sequencingsoftware

1.7 match 1 stars 4.48 score 25 scripts

eltebioinformatics

mulea:Enrichment Analysis Using Multiple Ontologies and False Discovery Rate

Background - Traditional gene set enrichment analyses are typically limited to a few ontologies and do not account for the interdependence of gene sets or terms, resulting in overcorrected p-values. To address these challenges, we introduce mulea, an R package offering comprehensive overrepresentation and functional enrichment analysis. Results - mulea employs a progressive empirical false discovery rate (eFDR) method, specifically designed for interconnected biological data, to accurately identify significant terms within diverse ontologies. mulea expands beyond traditional tools by incorporating a wide range of ontologies, encompassing Gene Ontology, pathways, regulatory elements, genomic locations, and protein domains. This flexibility enables researchers to tailor enrichment analysis to their specific questions, such as identifying enriched transcriptional regulators in gene expression data or overrepresented protein domains in protein sets. To facilitate seamless analysis, mulea provides gene sets (in standardised GMT format) for 27 model organisms, covering 22 ontology types from 16 databases and various identifiers resulting in almost 900 files. Additionally, the muleaData ExperimentData Bioconductor package simplifies access to these pre-defined ontologies. Finally, mulea's architecture allows for easy integration of user-defined ontologies, or GMT files from external sources (e.g., MSigDB or Enrichr), expanding its applicability across diverse research areas. Conclusions - mulea is distributed as a CRAN R package. It offers researchers a powerful and flexible toolkit for functional enrichment analysis, addressing limitations of traditional tools with its progressive eFDR and by supporting a variety of ontologies. Overall, mulea fosters the exploration of diverse biological questions across various model organisms.

Maintained by Tamas Stirling. Last updated 3 months ago.

annotationdifferentialexpressiongeneexpressiongenesetenrichmentgographandnetworkmultiplecomparisonpathwaysreactomesoftwaretranscriptionvisualizationenrichmentenrichment-analysisfunctional-enrichment-analysisgene-set-enrichmentontologiestranscriptomicscpp

0.5 match 28 stars 7.36 score 34 scripts

bioc

GRaNIE:GRaNIE: Reconstruction cell type specific gene regulatory networks including enhancers using single-cell or bulk chromatin accessibility and RNA-seq data

Genetic variants associated with diseases often affect non-coding regions, thus likely having a regulatory role. To understand the effects of genetic variants in these regulatory regions, identifying genes that are modulated by specific regulatory elements (REs) is crucial. The effect of gene regulatory elements, such as enhancers, is often cell-type specific, likely because the combinations of transcription factors (TFs) that are regulating a given enhancer have cell-type specific activity. This TF activity can be quantified with existing tools such as diffTF and captures differences in binding of a TF in open chromatin regions. Collectively, this forms a gene regulatory network (GRN) with cell-type and data-specific TF-RE and RE-gene links. Here, we reconstruct such a GRN using single-cell or bulk RNAseq and open chromatin (e.g., using ATACseq or ChIPseq for open chromatin marks) and optionally (Capture) Hi-C data. Our network contains different types of links, connecting TFs to regulatory elements, the latter of which is connected to genes in the vicinity or within the same chromatin domain (TAD). We use a statistical framework to assign empirical FDRs and weights to all links using a permutation-based approach.

Maintained by Christian Arnold. Last updated 5 months ago.

softwaregeneexpressiongeneregulationnetworkinferencegenesetenrichmentbiomedicalinformaticsgeneticstranscriptomicsatacseqrnaseqgraphandnetworkregressiontranscriptionchipseq

0.5 match 5.40 score 24 scripts

bioc

NoRCE:NoRCE: Noncoding RNA Sets Cis Annotation and Enrichment

While some non-coding RNAs (ncRNAs) are assigned critical regulatory roles, most remain functionally uncharacterized. This presents a challenge whenever an interesting set of ncRNAs needs to be analyzed in a functional context. Transcripts located close-by on the genome are often regulated together. This genomic proximity on the sequence can hint to a functional association. We present a tool, NoRCE, that performs cis enrichment analysis for a given set of ncRNAs. Enrichment is carried out using the functional annotations of the coding genes located proximal to the input ncRNAs. Other biologically relevant information such as topologically associating domain (TAD) boundaries, co-expression patterns, and miRNA target prediction information can be incorporated to conduct a richer enrichment analysis. To this end, NoRCE includes several relevant datasets as part of its data repository, including cell-line specific TAD boundaries, functional gene sets, and expression data for coding & ncRNAs specific to cancer. Additionally, the users can utilize custom data files in their investigation. Enrichment results can be retrieved in a tabular format or visualized in several different ways. NoRCE is currently available for the following species: human, mouse, rat, zebrafish, fruit fly, worm, and yeast.

Maintained by Gulden Olgun. Last updated 5 months ago.

biologicalquestiondifferentialexpressiongenomeannotationgenesetenrichmentgenetargetgenomeassemblygo

0.5 match 1 stars 4.60 score 6 scripts

plstenger

Anaconda:Targeted Differential and Global Enrichment Analysis of Taxonomic Rank by Shared Asvs

Targeted differential and global enrichment analysis of taxonomic rank by shared ASVs (Amplicon Sequence Variant), for high-throughput eDNA sequencing of fungi, bacteria, and metazoan. Actually works in two steps: I) Targeted differential analysis from QIIME2 data and II) Global analysis by Taxon Mann-Whitney U test analysis from targeted analysis (I) (I) Estimate variance-mean dependence in count/abundance ASVs data from high-throughput sequencing assays and test for differential represented ASVs based on a model using the negative binomial distribution. (II) NCBITaxon_MWU uses continuous measure of significance (such as fold-change or -log(p-value)) to identify NCBITaxon that are significantly enriches with either up- or down-represented ASVs. If the measure is binary (0 or 1) the script will perform a typical 'NCBITaxon enrichment' analysis based Fisher's exact test: it will show NCBITaxon over-represented among the ASVs that have 1 as their measure. On the plot, different fonts are used to indicate significance and color indicates enrichment with either up (red) or down (blue) regulated ASVs. No colors are shown for binary measure analysis. The tree on the plot is hierarchical clustering of NCBITaxon based on shared ASVs. Categories with no branch length between them are subsets of each other. The fraction next to the category name indicates the fraction of 'good' ASVs in it; 'good' ASVs are the ones exceeding the arbitrary absValue cutoff (option in taxon_mwuPlot()). For Fisher's based test, specify absValue=0.5. This value does not affect statistics and is used for plotting only. The original idea was for genes differential expression analysis from Wright et al (2015) <doi:10.1186/s12864-015-1540-2>; adapted here for taxonomic analysis. The 'Anaconda' package makes it possible to carry out these analyses by automatically creating several graphs and tables and storing them in specially created subfolders. You will need your QIIME2 pipeline output for each kingdom (eg; Fungi and/or Bacteria and/or Metazoan): i) taxonomy.tsv, ii) taxonomy_RepSeq.tsv, iii) ASV.tsv and iv) SampleSheet_comparison.txt (the latter being created by you).

Maintained by Pierre-Louis Stenger. Last updated 1 months ago.

0.5 match 3.18 score

cran

ADLP:Accident and Development Period Adjusted Linear Pools for Actuarial Stochastic Reserving

Loss reserving generally focuses on identifying a single model that can generate superior predictive performance. However, different loss reserving models specialise in capturing different aspects of loss data. This is recognised in practice in the sense that results from different models are often considered, and sometimes combined. For instance, actuaries may take a weighted average of the prediction outcomes from various loss reserving models, often based on subjective assessments. This package allows for the use of a systematic framework to objectively combine (i.e. ensemble) multiple stochastic loss reserving models such that the strengths offered by different models can be utilised effectively. Our framework is developed in Avanzi et al. (2023). Firstly, our criteria model combination considers the full distributional properties of the ensemble and not just the central estimate - which is of particular importance in the reserving context. Secondly, our framework is that it is tailored for the features inherent to reserving data. These include, for instance, accident, development, calendar, and claim maturity effects. Crucially, the relative importance and scarcity of data across accident periods renders the problem distinct from the traditional ensemble techniques in statistical learning. Our framework is illustrated with a complex synthetic dataset. In the results, the optimised ensemble outperforms both (i) traditional model selection strategies, and (ii) an equally weighted ensemble. In particular, the improvement occurs not only with central estimates but also relevant quantiles, such as the 75th percentile of reserves (typically of interest to both insurers and regulators). Reference: Avanzi B, Li Y, Wong B, Xian A (2023) "Ensemble distributional forecasting for insurance loss reserving" <doi:10.48550/arXiv.2206.08541>.

Maintained by Yanfeng Li. Last updated 11 months ago.

0.5 match 2.70 score