Evidence mapPaperPMID 42372295Full record

ArticleBriefings in bioinformatics2026

Continuous multi-omics pathway enrichment analysis resolves hidden functional heterogeneity.

Sareh Amerifar, Andreas Kopf, Steffen Sass, Zahra Moslehi, Dennis Hecker, Julius C Enssle, Marcel H Schulz, Thomas Oellerich, Fabian J Theis, Florian Buettner

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Sareh AmerifarMedicineII-Hematology and Oncology, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Andreas KopfGerman Cancer Consortium (DKTK), partner site Frankfurt/Mainz, a partnership between DKFZ and UCT Frankfurt-Marburg, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Steffen SassInstitute of Computational Biology, Helmholtz Munich, Ingolstädter Landstraße 1, 85764 Neuherberg, Bavaria, Germany.
Zahra MoslehiMedicineII-Hematology and Oncology, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Dennis HeckerInstitute for Computational Genomic Medicine, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Julius C EnssleMedicineII-Hematology and Oncology, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Marcel H SchulzInstitute for Computational Genomic Medicine, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Thomas OellerichMedicineII-Hematology and Oncology, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.
Fabian J TheisInstitute of Computational Biology, Helmholtz Munich, Ingolstädter Landstraße 1, 85764 Neuherberg, Bavaria, Germany.
Florian BuettnerGoethe University Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Hessen, Germany.

Funding

Cardio-Pulmonary Institute 390649896Deutsche Krebshilfe with a postdoctoral scholarship 70116591DFG 403584255DFG SFB 1530DFG TRR267DZHK 81Z0200101Proteogenomic characterization of mantle cell lymphoma 455784452Proteogenomic characterization of mantle cell lymphoma EN 1338/1-1the Hessian.AI center
6 · The paper itself

Abstract

Pathway enrichment analysis is essential for extracting biological insights from complex omics datasets, yet existing methods suffer from critical limitations: excessive false discoveries, arbitrary significance thresholds, poor handling of multi-omics data, and inability to model gene dependencies. We present JOANA (Joint continuous multi-Omics enrichment ANAlysis), a novel Bayesian framework for pathway analysis with three key contributions. First, JOANA enables high specificity through continuous probabilistic modeling of significance scores using Beta mixture distributions, eliminating arbitrary thresholds while maintaining sensitivity. Second, JOANA's multi-omics integration via Bayesian networks inherently accounts for missing values and reveals pathways invisible to single-layer analyses. Finally, we demonstrate high versatility across diverse experimental paradigms-from proteomics and transcriptomics to single-cell transcriptomics, mutation analysis, and transcriptomics-epigenomics data. In systematic comparisons on synthetic data as well as diverse real-world multi-modal datasets, JOANA achieves up to $\sim $20-fold reduction in reported pathways compared with existing methods while maintaining sensitivity for true biological signals. We implement JOANA in an open-source Python package, joanapy.

Indexed as

Computational BiologyMultiomicsSoftwareAlgorithmsBayes TheoremGene Expression ProfilingHumansProteomicsTranscriptomeBayesian modelingbioinformaticsmachine learningmulti-omics integrationpathway enrichment analysis

Identifiers

PMID42372295
PMCPMC13313529

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.