Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

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 genetic mutations in inherited re...

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Detalles Bibliográficos
Autores principales: Shen, Ren-Juan, Wang, Jun-Gang, Li, Yang, Jin, Zi-Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204521/
https://www.ncbi.nlm.nih.gov/pubmed/34130719
http://dx.doi.org/10.1186/s13023-021-01902-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204521/
https://www.ncbi.nlm.nih.gov/pubmed/34130719
http://dx.doi.org/10.1186/s13023-021-01902-5

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