Whole Exome Sequencing of eye: adult female eye
The sequencing library was constructed using the Illumina TruSeq DNA Library Preparation Kit. DNA fragments were sheared to a size of 200-300 bp, followed by end-repair, A-tailing, and adapter ligation. Libraries were enriched for exonic regions using Agilent SureSelect Human All Exon V6 probes, according to the manufacturers protocol. Paired-end sequencing was performed on an Illumina NovaSeq 6000 platform with a read length of 150 bp. Library quality was verified using qPCR and Bioanalyzer analysis prior to sequencing.