Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
Ren-Juan ShenJun-Gang WangYang LiZi-Bing JinPublished in: Orphanet journal of rare diseases (2021)
The genetic etiology in consanguineous families with IRD were successfully identified using consanguinity-based analysis of exome sequencing data, suggesting that this approach could provide complementary insights into genetic diagnoses in consanguineous families with variant genetic disorders.