medRxiv 预印本· Singh, M., Stenton, S. L., Groopman, E., Singer-Berk, M., Ma, J., Choufani, S., O'Heir, E., DiTroia, S., Osei-Owusu, I., Pais, L., Lemire, G., O'Leary, M., Austin-Tse, C., Genetti, C. A., Anderson, K. N., Wojcik, M. H., Beggs, A. H., Neil, J. E., Lai, A., Walsh, C. A., Jurgens, J. A., Barry, B. J., Engle, E. C., Donkervoort, S., Bonnemann, C. G., Argilli, E., Sherr, E. H., Kipkemoi, P., Bruwer, Z., Donald, K. A., Straub, V., Topf, A., White, S. M., Tan, T. Y., Gallacher, L., Arts, P., Jackson, M. R., Ha, T. T., Barnett, C. P., Byrne, A. B., Scott, H. S., Ganesh, V. S., Rehm, H. L., Weksberg, R ·· 1 天前AI 评分22
4,325个罕见病家系系统评估不完全外显：CHD8家系表观与转录组分析揭示下游转录网络差异
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology
AI 导读
研究团队建立流程，在Broad Center for Mendelian Genomics（GREGoR联盟）的4,325个罕见病家系中系统筛查遗传自“未患病”父母的不完全外显（IP）变异，共发现81个家系，临床再评估后30个家系变异被判为诊断性，含6例既往漏诊，IP变异占确诊案例1.6%、队列总体诊断率0.4%。
来源：medRxiv 预印本 · medrxiv.org