Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis

Dante Labs carried out the whole-exome sequencing for this study, conducted at our Dubai Silicon Oasis facility in the United Arab Emirates. Genomic DNA was extracted, fragmented and subjected to targeted gene capture of the human exome using a custom capture kit, and the resulting indexed libraries were sequenced to a depth of 100× using 2 × 150 chemistry on the Illumina sequencing platform. Primary and secondary analyses were run on the Illumina DRAGEN platform, with the sequences aligned to the human reference genome (GRCh37/hg19) using DRAGEN. For tertiary analysis, the disease databases ClinVar, OMIM, GWAS, HGMD and SwissVar were used, and common variants were filtered on the basis of their allele frequency in the 1000 Genomes Project Phase 3, ExAC, EVS and dbSNP147.