Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (8)

2024

  1. NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

    Nucleic Acids Research, Vol. 52, Núm. 9, pp. e44

2023

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

    Epigenetics, Vol. 18, Núm. 1

  2. Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia

    Haematologica, Vol. 108, Núm. 10, pp. 2652-2663

2022

  1. Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

    eLife, Vol. 11

  2. The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

    Communications Biology, Vol. 5, Núm. 1

2020

  1. Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits

    Genome Research, Vol. 31, Núm. 12, pp. 1802-1814

  2. Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases

    American Journal of Human Genetics, Vol. 106, Núm. 6, pp. 846-858

2019

  1. scoreInvHap: Inversion genotyping for genome-wide association studies

    PLoS Genetics, Vol. 15, Núm. 7