Whole-exome sequencing for identification of pathogenic BBS10 variants

This project performed whole-exome sequencing (WES) on genomic DNA isolated from human peripheral blood to conduct a comprehensive genetic analysis. Sequencing was performed on an Illumina NovaSeq 6000 platform (2 x 150 bp, paired-end). The analysis aimed to identify pathogenic variants and successfully identified compound heterozygous pathogenic variants in the BBS10 gene.