Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
短读长全基因组测序可识别出大多数先前无法解释的无虹膜症患者的致病变异。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109181
Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E; Bitoun, Pierre; Kirk, Edwin P; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; FitzPatrick, David R; Meynert, Alison