Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-024-01910-8
Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C