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[Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Oct 2020

Liu X Z, Li Y Y, Yang L P

Abstract excerpt

OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were...

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PMID: 33047716
PMCID: PMC7653409

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