DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, Michael A. Levy, Maria Rosaria Piemontese, Marco Castori, Maria Accadia, Elisa Biamino, Matteo Della Monica, Marilena Carmela Di Giacomo, Cristina Gervasini, Silvia Maitz, Daniela Melis, Donatella Milani, Maria Piccione, Paolo Prontera, Angelo Selicorni, Bekim Sadiković, Giuseppe Merla
Topics & Concepts
DNA methylationGeneticsMethylationBiologyComputational biologyDNA sequencingDNABioinformaticsGeneGene expressionGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenomics and Chromatin Dynamics