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Epigenetics Volume 18, 2023 - Issue 1
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Research Article

Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

Carlos Ruiz-Arenasa Centro de Investigación Biomédica En Red de Enfermedades Raras (CIBERER), Barcelona, Spain;b Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, SpainView further author information
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Leire Abarrateguic Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain;d Department of Mathematics, Autonomous University of Barcelona (UAB), Barcelona, Spain;e Faculty of Medical Sciences, Newcastle University, Newcastle-Upon-Tyne, UKView further author information
,
Carles Hernandez-Ferrerf Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona, Spain;g Barcelona Institute of Science and Technology (BIST), Barcelona, SpainView further author information
,
Xavier Escribà-Montagutc Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain;d Department of Mathematics, Autonomous University of Barcelona (UAB), Barcelona, SpainView further author information
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Dolors Pelegrí-Sisóc Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain;d Department of Mathematics, Autonomous University of Barcelona (UAB), Barcelona, SpainView further author information
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Patricia Ryser-Welche Faculty of Medical Sciences, Newcastle University, Newcastle-Upon-Tyne, UKView further author information
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Martine Vrijheidb Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain;c Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain;h Centro de Investigación Biomédica En Red En epidemiología Y Salud Pública (CIBERESP), Madrid, SpainView further author information
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Mariona Bustamanteb Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain;c Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain;g Barcelona Institute of Science and Technology (BIST), Barcelona, Spain;h Centro de Investigación Biomédica En Red En epidemiología Y Salud Pública (CIBERESP), Madrid, SpainView further author information
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Regina Grazulevicienei Department of Environmental Science, Vytautas Magnus University, Kaunas, LithuaniaView further author information
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Johanna Lepeulej Inserm, CNRS, Team of Environmental Epidemiology Applied to Development and Respiratory Health, Institute for Advanced Biosciences, University Grenoble Alpes, Grenoble, FranceView further author information
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Mathew Mathaik Bradford Institute of Health Research, Bradford Teaching Hospitals NHS Foundation Trust, West Yorkshire, UKView further author information
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Marina Vafeiadil Department of Social Medicine, Faculty of Medicine, University of Crete, Heraklion, Crete, GreeceView further author information
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Sergi Beltranf Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona, Spain;g Barcelona Institute of Science and Technology (BIST), Barcelona, SpainView further author information
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Luis A Pérez-Juradoa Centro de Investigación Biomédica En Red de Enfermedades Raras (CIBERER), Barcelona, Spain;b Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain;m Genetics Service, Hospital Del Mar and Hospital Del Mar Research Institute (IMIM), Barcelona, SpainView further author information
&
Juan R Gonzálezc Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain;d Department of Mathematics, Autonomous University of Barcelona (UAB), Barcelona, Spain;h Centro de Investigación Biomédica En Red En epidemiología Y Salud Pública (CIBERESP), Madrid, SpainCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-3267-2146View further author information
ORCID Icon show all
Article: 2230670 | Received 13 Dec 2022, Accepted 21 Jun 2023, Published online: 06 Jul 2023

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