Whole exome sequencing (WES) targets and sequences all protein-coding regions (exons) of the genome, covering about 1–2% of total DNA. This method utilizes next-generation sequencing (NGS) to detect genetic variants, including single nucleotide variants (SNVs) and small insertions or deletions. WES is commonly used in clinical diagnostics and research to identify genetic causes of diseases.
Clinical exome sequencing (CES) is a targeted sequencing approach that analyzes the exons of genes associated with specific diseases. Using next-generation sequencing (NGS), CES identifies genetic variants linked to hereditary conditions and other health issues. By focusing on clinically relevant regions, CES aids in accurate diagnosis, informs treatment decisions, and supports genetic counseling for patients and families.
Custom panel sequencing is a targeted genomic sequencing technique designed to analyze a specific set of genes or genomic regions tailored to research or clinical needs. Utilizing next-generation sequencing (NGS), this method efficiently detects genetic variants associated with particular diseases or conditions, enhancing diagnostic accuracy and providing insights for personalized treatment and research applications.
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