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Article

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European journal of human genetics : EJHG - 1 Aug 2021

Doucette Lance P, Noel Nicole C L, Zhai Yi, Xu Manlong, Caluseriu Oana, Hoang Stephanie C, Radziwon Alina J, MacDonald Ian M

Abstract excerpt

Inherited retinal dystrophies (IRDs) affect 1 in 3000 individuals worldwide and are genetically heterogeneous, with over 270 identified genes and loci; however, there are still many identified disorders with no current genetic etiology. Whole exome sequencing (WES) provides a hypothesis-free first examination of IRD patients in either a clinical or research setting to identify the genetic cause of disease. We...

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Identifiers

PMID: 33776059
DOI: 10.1038/s41431-021-00872-3
PMCID: PMC8385108

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