Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases
系统性地大规模应用 ClinGen InSiGHT APC 特异性 ACMG/AMP 变异分类标准，可显著减轻 ClinVar 和 LOVD 数据库中意义未明变异的负担。
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影响因子:
doi:10.1101/2024.05.03.24306761
Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V O; Pineda, Marta; Ritter, Deborah; den Dunnen, Johan T; Hassanin, Emadeldin; Lyman Lin, Wencong; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily A W; 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
