WES of Homo sapiens: ectopic posterior pituitary
Illumina Whole Exome Sequencing (WES) involves extracting high-quality genomic DNA from sources like blood or tissue, fragmenting it, and preparing a library by adding specific adapters. The library undergoes hybridization with biotinylated probes targeting exonic regions, followed by capture using magnetic beads, and post-capture amplification. The prepared library is quality-checked and loaded onto an Illumina sequencing platform for paired-end sequencing. Sequencing data is processed through base calling, alignment to a reference genome, variant calling, and annotation to identify and interpret genetic variants