Sample Collection: DNA is extracted from a blood or saliva sample. Library Preparation: The DNA is fragmented, and adapters are added to create a library of DNA fragments. Exome Capture: Probes are used to capture the exonic regions of the DNA. Sequencing: The captured DNA is sequenced using high-throughput sequencing technology. Data Analysis: Bioinformatics tools are used to analyze the sequencing data and identify genetic variants.
