Genetic association analysis of 77,539 genomes reveals rare disease etiologies
77,539 个基因组的遗传关联分析揭示了罕见疾病的病因
期刊:Nature Medicine
影响因子:58.7
doi:10.1038/s41591-023-02211-z
Daniel Greene; Genomics England Research Consortium; Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo