WES on Alport symdrome patient
Extracting genomic DNA from 200 L of whole blood, followed by DNA quantification and purity analysis. The whole exome library is then constructed using specific reagent kits and captured with the AIExome Human Exome Panel. The library is quantified using the dsDNA HS Assay Kit and a Qubit 3.0 Fluorometer, and its fragment size is analyzed with the DNA 1000 kit on an Agilent 2100 Bioanalyzer. Finally, the library is prepared for sequencing through sub-library pooling, adapter ligation, and DNB preparation, followed by sequencing on the DNBSEQ-T7 platform according to the specified reagent kit instructions.