Identification of a robust DNA methylation signature for Fanconi anemia

Fanconi anemia (FA) is the most common bone marrow failure syndrome. Molecular diagnosis is challenging due to its genetic heterogeneity and wide mutation spectrum. We identify an FA-specific DNA methylation signature that aids in classification of variants and establishing/refuting a clinical diagnosis in molecularly uninformative and revertant cases.

Source: The American Journal of Human Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Michael A. Levy, Evelina Miele, Claudia Nardini, Camilla Cappelletti, Raissa Relator, Angela Pitisci, Rita De Vito, Simone Pizzi, Jennifer Kerkhof, Haley McConkey, Francesca Tags: Article Source Type: research