Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
拷贝数变异分析提高了儿童外显子组测序队列的诊断率
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00478-4
Hahn, Elan; Dharmadhikari, Avinash V; Markowitz, Alexander L; Estrine, Dolores; Quindipan, Catherine; Maggo, Simran D S; Sharma, Ankit; Lee, Brian; Maglinte, Dennis T; Shams, Soheil; Deardorff, Matthew A; Biegel, Jaclyn A; Gai, Xiaowu; Sun, Miao; Schmidt, Ryan J; Raca, Gordana; Ji, Jianling