Publication
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A. Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Genome Medicine, September 2024, Springer Science + Business Media
DOI: 10.1186/s13073-024-01378-5