Evidence map›Paper›PMID 41118575›Full record

ArticleNucleic acids research2025

Pipeline Olympics: continuable benchmarking of computational workflows for DNA methylation sequencing data against an experimental gold standard.

Yu-Yu Lin, Kersten Breuer, Dieter Weichenhan, Pascal Lafrenz, Antonella Sarnataro, Agata Wilk, Maryna Chepeleva, Oliver Mücke, Maximilian Schönung, Franziska Petermann and 30 more

Abstract read
In one paragraph

Article in Nucleic acids research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

40 authors.

Yu-Yu LinDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Kersten BreuerDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Dieter WeichenhanDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-7915-412X
Pascal LafrenzDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-3791-3474
Antonella SarnataroDepartment of Oncology, KU Leuven, 3000 Leuven, Belgium.ORCID 0009-0002-5195-697X
Agata WilkDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Maryna ChepelevaMultiomics Data Science Research Group, Department of Cancer Research, Luxembourg Institute of Health, 1445 Strassen, Luxembourg.
Oliver MückeDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Maximilian SchönungSection of Translational Cancer Epigenomics, Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-9778-9698
Franziska PetermannNGS Core Facility, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Philip Reiner KenscheOmics-IT and Data Management Core Facility (ODCF), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Lena WeiserOmics-IT and Data Management Core Facility (ODCF), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Frank ThommenOmics-IT and Data Management Core Facility (ODCF), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Gideon GiacomelliBerlin Institute of Health, University Hospital Charité, 10178 Berlin, Germany.
Karl NordstroemDepartment of EpiGenetics, Saarland University, 66123 Saarbrücken, Germany.
Edahi Gonzalez-AvalosDivision of Signaling and Gene Expression, La Jolla Institute for Immunology, La Jolla, CA 92037, United States.
Angelika MerkelBioinformatics Development and Statistical Genomics, Center for Genomic Regulation (CRG), Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.ORCID 0000-0001-5164-6803
Helene KretzmerLIFE-Leipzig Research Center for Civilization Diseases, University Leipzig, 04103 Leipzig, Germany.ORCID 0000-0002-0723-4980
Jonas FischerDepartment for Computer Vision and Machine Learning, Max Planck Institute for Informatics, 66123 Saarbrücken, Germany.
Stephen KrämerSection of Translational Cancer Epigenomics, Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-9585-9330
Murat IskarDivision of Molecular Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Stephan WolfNGS Core Facility, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Ivo BuchhalterOmics-IT and Data Management Core Facility (ODCF), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0003-0764-5832
Manel EstellerJosep Carreras Leukaemia Research Institute (IJC), 08916 Badalona, Catalonia, Spain.ORCID 0000-0003-4490-6093
Christian LawerenzBerlin Institute of Health, University Hospital Charité, 10178 Berlin, Germany.
Sven TwardziokBerlin Institute of Health, University Hospital Charité, 10178 Berlin, Germany.
Marc ZapatkaDivision of Molecular Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0001-8287-5967
Volker HovestadtBroad Institute of MIT and Harvard, Cambridge, MA 02142, United States.ORCID 0000-0002-3480-6649
Matthias SchlesnerBiomedical Informatics, Data Mining and Data Analytics, Faculty of Applied Computer Science and Medical Faculty, University of Augsburg,86159 Augsburg, Germany.ORCID 0000-0002-5896-4086
Marcel H SchulzInstitute for Computational Genomic Medicine, Goethe University,60590 Frankfurt-am-Main, Germany.ORCID 0000-0002-1252-3656
Steve HoffmannLIFE-Leipzig Research Center for Civilization Diseases, University Leipzig, 04103 Leipzig, Germany.ORCID 0000-0002-5239-7201
Clarissa GerhauserDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-5792-3901
Jörn WalterDepartment of EpiGenetics, Saarland University, 66123 Saarbrücken, Germany.ORCID 0000-0003-0563-7417
Mark HartmannSection of Translational Cancer Epigenomics, Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-4072-4658
Daniel B LipkaSection of Translational Cancer Epigenomics, Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0001-5081-7869
Yassen AssenovDepartment of Mathematics and Technology, RheinAhrCampus Remagen, University of Applied Sciences Koblenz, 53424 Remagen, Germany.
Christoph BockCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria.ORCID 0000-0001-6091-3088
Christoph PlassDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0003-2554-3952
Reka TothDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0003-4099-5359
Pavlo LutsikDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0001-9383-8555

Funding

BMBF 01KD2207ABMBF 031L0162BCardio-Pulmonary Institute 390649896German Cancer Aid 70113869German Cancer Aid STG/22/024German Center for Cardiovascular Research 81Z0200101German Network for Bioinformatics Infrastructure 031L0101AHorizon 2020 824110Horizon Europe 101058427Joachim Herz FoundationKU LeuvenWilhelm Sander-Stiftung 2022.010.1
6 · The paper itself

Abstract

DNA methylation is a widely studied epigenetic mark and a powerful biomarker of cell type, age, environmental exposures, and disease. Whole-genome sequencing following selective conversion of unmethylated cytosines into thymines via bisulfite treatment or enzymatic methods remains the reference method for DNA methylation profiling genome-wide. While numerous software tools facilitate processing of DNA methylation sequencing reads, a comprehensive benchmarking study has been lacking. In this study, we systematically compared complete computational workflows for processing DNA methylation sequencing data using a dedicated benchmarking dataset generated with five whole-genome profiling protocols. As an evaluation reference, we employed accurate locus-specific measurements from our previous benchmark of targeted DNA methylation assays. Based on this experimental gold-standard assessment and multiple performance metrics, we identified workflows that consistently demonstrated superior performance and revealed major workflow development trends. To ensure the long-term utility of our benchmark, we implemented an interactive workflow execution and data presentation platform, adaptable to user-defined criteria and readily expandable to future software.

Indexed as

Computational BiologyDNA MethylationSequence Analysis, DNASoftwareBenchmarkingEpigenesis, GeneticEpigenomicsHumansWhole Genome SequencingWorkflow

Identifiers

PMID41118575
PMCPMC12539629

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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 OpenQuestion graph.