Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.

Ayça Kocaaga İrem Öztürk Aköz Nihal Ulus Demir Bariş Paksoy

Published in: Revista da Associacao Medica Brasileira (1992) (2023)

As the first study of the application of whole-exome sequencing among patients with retinitis pigmentosa in a Turkish cohort, our results may contribute to the characterization of the spectrum of variants related to retinitis pigmentosa in the Turkish population. Future population-based studies will enable us to reveal the detailed genetic epidemiology of retinitis pigmentosa.

Keyphrases

genome wide
copy number
dna methylation
risk factors
current status
transcription factor
case control