Evidence for 28 genetic disorders discovered by combining healthcare and research data
通过结合医疗保健和研究数据,发现了28种遗传疾病的证据。
期刊:Nature
影响因子:48.5
doi:10.1038/s41586-020-2832-5
Kaplanis, Joanna; Samocha, Kaitlin E; Wiel, Laurens; Zhang, Zhancheng; Arvai, Kevin J; Eberhardt, Ruth Y; Gallone, Giuseppe; Lelieveld, Stefan H; Martin, Hilary C; McRae, Jeremy F; Short, Patrick J; Torene, Rebecca I; de Boer, Elke; Danecek, Petr; Gardner, Eugene J; Huang, Ni; Lord, Jenny; Martincorena, Iñigo; Pfundt, Rolph; Reijnders, Margot R F; Yeung, Alison; Yntema, Helger G; Vissers, Lisenka E L M; Juusola, Jane; Wright, Caroline F; Brunner, Han G; Firth, Helen V; FitzPatrick, David R; Barrett, Jeffrey C; Hurles, Matthew E; Gilissen, Christian; Retterer, Kyle