Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
大规模应用 ClinGen-InSiGHT APC 特异性 ACMG/AMP 变异分类标准可显著减少 VUS。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.09.002
Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V O; Pineda, Marta; Ritter, Deborah; de Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V; Maj, Carlo; Plon, Sharon E; Greenblatt, Marc S; Macrae, Finlay A; Spier, Isabel; Aretz, Stefan