Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
评估血液转录组分析对先前已通过基因组测序评估的儿科队列的诊断价值
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00505-4
Hou, Huayun; Yuki, Kyoko E; Costain, Gregory; Szuto, Anna; Barnes, Sierra; Ramani, Arun K; Celik, Alper; Braga, Michael; Gloven-Brown, Meagan; Stavropoulos, Dimitri J; Bowdin, Sarah; Cohn, Ronald D; Mendoza-Londono, Roberto; Scherer, Stephen W; Brudno, Michael; Marshall, Christian R; Stephen Meyn, M; Shlien, Adam; Dowling, James J; Wilson, Michael D; Kyriakopoulou, Lianna