Genetics of Human Inherited Retinal Diseases (GHIRD)

Study ID Alternative Stable ID Type
phs001517 Case Set

Study Description

The goal of this project is to identify novel mutations and genes involved in human retinal disorders, a stated priority of the National Eye Institute. To accomplish this, additional genes whose mutations cause inherited retinal diseases (IRD) will be identified by combining targeted and whole exome sequencing. We have collected about 900 patient families around the world. In this proposal, we will identify the underlying mutations in these patients using a combination of targeted and whole exome sequencing, bioinformatics, statistics, and functional studies.

Genes targeted for exome sequencing are: ABCA4; ASIC2; JAG1; ABCC6; ARL3; ATP1B2; BBS1; (Show More)

Archive Link Archive Accession
dbGaP phs001517

Who archives the data?

There are no publications available