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

  1. Ruiz-Arenas, Carlos 1
  2. Abarrategui, Leire 2
  3. Hernandez-Ferrer, Carles 3
  4. Escribà-Montagut, Xavier 2
  5. Pelegrí-Sisó, Dolors 2
  6. Ryser-Welch, Patricia 4
  7. Vrijheid, Martine 5
  8. Bustamante, Mariona 5
  9. Grazuleviciene, Regina 6
  10. Lepeule, Johanna 7
  11. Mathai, Matthew 8
  12. Vafeiadi, Marina 9
  13. Beltran, Sergi 3
  14. Pérez-Jurado, Luis A 1
  15. González Ruiz, Juan Ramón 5
  1. 1 Centro de Investigación Biomédica en Red sobre Enfermedades Raras
    info

    Centro de Investigación Biomédica en Red sobre Enfermedades Raras

    Madrid, España

    ROR https://ror.org/01ygm5w19

  2. 2 Instituto de Salud Global Barcelona
  3. 3 Centro Nacional de Análisis Genómico
    info

    Centro Nacional de Análisis Genómico

    Barcelona, España

    ROR https://ror.org/03mynna02

  4. 4 Newcastle University
    info

    Newcastle University

    Newcastle-upon-Tyne, Reino Unido

    ROR https://ror.org/01kj2bm70

  5. 5 Instituto de Salud Global de Barcelona
    info

    Instituto de Salud Global de Barcelona

    Barcelona, España

  6. 6 Vytautas Magnus University
    info

    Vytautas Magnus University

    Kaunas, Lituania

    ROR https://ror.org/04y7eh037

  7. 7 French Institute of Health and Medical Research
    info

    French Institute of Health and Medical Research

    París, Francia

    ROR https://ror.org/02vjkv261

  8. 8 Bradford Institute for Health Research
  9. 9 Crete University Press
Erakutsi afiliazioak +

Argitaratzaile: Zenodo

Argitalpen urtea: 2023

Mota: Dataset

CC BY 4.0

DOI: 10.5281/ZENODO.7839976 lock_openSarbide irekia editor

Laburpena

This project contain the simulation data used to evaluate the epimutacions methods in the manuscript: Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package