Whole Exome Sequencing
Whole exome sequencing (WES), also known as clinical exome sequencing, focuses on targeting and sequencing all protein-coding regions (exons) of the genome, which represents about 1–2% of total DNA. This advanced method employs next-generation sequencing (NGS) to identify genetic variants, such as single nucleotide variants (SNVs) and small insertions or deletions. WES is widely utilized in genetic diagnostics and research to uncover the genetic causes of various diseases.
Clinical Exome Sequencing
Clinical exome sequencing (CES) is a targeted approach for genetic diagnostics that analyzes the exons of genes associated with specific diseases. Utilizing next-generation sequencing (NGS), clinical exome sequencing identifies genetic variants linked to hereditary conditions and other health issues. By concentrating on clinically relevant regions, CES not only aids in accurate diagnosis but also informs treatment decisions and supports genetic counseling for patients and families, acting as a crucial step in the broader context of whole exome sequencing.