The Genetic Basis of Inherited Reproductive Disorders

The goal of this project is to determine the genetic etiology of congenital arhinia and Bosma arhinia microphthalmia syndrome through a combination of whole-exome, whole-genome, and targeted sequencing followed by in silico, in vitro, and in vivo functional modeling.

本项目旨在明确先天性无鼻畸形与博斯玛无鼻小眼综合征的遗传病因，研究将首先联合应用全外显子组测序、全基因组测序及靶向测序技术，随后开展计算机模拟（in silico）、体外（in vitro）与体内（in vivo）功能建模实验。