COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts
COBT：一种基于基因的罕见变异负荷检测方法，适用于仅病例研究设计，使用来自公共参考队列的汇总基因型数据。
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-026-01619-9
Favier, Antoine; Chounta, Stefania; Garcia, Alejandro; Jabot-Hanin, Fabienne; Chen, Xiaoyi; Garcelon, Nicolas; Burgun, Anita; Higueras, Manuel; Guilloux, Agathe; Benmerah, Alexandre; Martin, Yoann; Billot, Katy; Rozet, Jean-Michel; Perrault, Isabelle; Cormier-Daire, Valérie; Huber, Céline; Zaidan, Mohamad; Attie-Bitach, Tania; Saunier, Sophie; Rausell, Antonio
