"Clinical, Genomic, and Phenotypic Dataset from a Whole-Exome Sequencing Study of Idiopathic Inherited Ocular Disorders in Iranian Families"
Abstract
Dataset Title:"Clinical, Genomic, and Phenotypic Dataset from a Whole-Exome Sequencing Study of Idiopathic Inherited Ocular Disorders in Iranian Families" Description:This dataset contains the complete de-identified clinical and genomic data supporting the findings of the manuscript entitled "Diagnostic Yield and Variant Spectrum of Whole-Exome Sequencing in Iranian Probands with Congenital and Early-Onset Ocular Disorders" . The data were generated from a whole-exome sequencing study of Iranian families with idiopathic inherited ocular disorders. The dataset comprises four structured tables (provided as Excel files) and a Readme guide: 1. Clinical and Demographic Characteristics of Probands2. Genotype-Phenotype Correlations3. Incidental variants identified by targeted exome sequencing4. Full Significant Variant List Data Context & Limitations: · This study is based on clinically annotated VCF files received from our sequencing service provider. Our primary contribution involved the detailed interpretation of these variants, genotype-phenotype correlation analysis, and determining their clinical significance.· Due to severe internet infrastructure restrictions in Iran, public deposition in specialized genomic repositories (EGA, ENA, dbGaP) was technically impossible.· This dataset provides all processed data necessary to reproduce the study's analyses and conclusions. Contact Information: Corresponding Author: Dr.Ahmad Ebrahimi Email:Ahmadebrahimi64@gmail.com First Author,Corresponding Author : Ali Asadi,MSc Email: A-asadi@alumnus.tums.ac.ir- Daliasadi3165@gmail.com Citation: Published version:https://doi.org/10.1016/j.ymgmr.2026.101339
Fields of Study & Subjects
Genomics and Rare Diseases
Ocular Disorders and Treatments
Retinal Development and Disorders
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 5 April 2026
- Language
- EN
- Document type
- Dataset