Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-01902-5
Abstract: Background Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity-based exome sequencing approach to capturing… read more here.
Keywords: exome sequencing; dystrophy; consanguinity based; consanguineous families ... See more keywords