A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
基于贝叶斯方法的定量基因特异性变异分类：更新的专家组建议改进了李-弗劳梅尼综合征TP53种系变异的分类。
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01536-3
Fortuno, Cristina; Frone, Megan N; Mester, Jessica; de la Hoya, Miguel; Mai, Phuong L; Pesaran, Tina; Achatz, Maria Isabel; Bassett, Rebecca; Bustamante, Carolina; Crowley, Stephanie; de Andrade, Kelvin Cesar; Evans, D Gareth; Feng, Bingjian; Fuqua, Laura; Harrell, Maria Isabel; Hatton, Jessica N; Huether, Robert; Kesserwan, Chimene; Lee, Kristy; MacFarland, Suzanne P; Maciaszek, Jamie L; Maxwell, Kara; McGoldrick, Kelly; Murphy, Maureen; Nehoray, Bita; Penkert, Judith; Pinto, Emilia Modolo; Plon, Sharon E; Schwartz-Levine, Alison; Thompson, Ashley S; Wang, Wenyi; Zambetti, Gerard P; Zelley, Kristin; James, Paul A; Savage, Sharon A; Kratz, Christian P; Spurdle, Amanda B
