Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
染色质构象捕获技术在临床中的应用:4C-seq/HiC 可区分 GPR101 位点的致病性重复和中性重复
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-024-01378-5
Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin