How Whole Exome Sequencing Test Impacts Diagnostics?

Overview of Whole Exome Sequencing Test The Whole Exome Sequencing Test is a genomic technique that focuses on sequencing all the protein-coding regions of the genome, known as exons. These regions are crucial as they account for the vast majority of disease-causing mutations. By examining the exome, WES provides a comprehensive analysis of genetic variants, enabling the detection of both known and novel mutations. This test is widely used in diagnosing rare genetic disorders, complex diseases, and unexplained medical conditions, offering a more targeted and efficient approach to identifying the genetic basis of health issues. Advancements in genomic technology have transformed healthcare, particularly in the area of diagnostics. One of the most significant breakthroughs in this field is the Whole Exome Sequencing Test (WES). This powerful tool focuses on analyzing the protein-coding regions of the genome, known as exons, which represent about 1-2% of the human genome but account ...