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The human genome refers to an individual's complete set of DNA. The exome is a small section (1 to 2 percent) of the genome. It contains DNA sequences (exons) which provide instruction (coding) for making proteins, the building blocks of cells. Whole exome sequencing (WES) sequences only the coding region (1 to 2 percent) of an individual's genome. Whole exome sequencing can be used to identify variations in the protein-coding region of any gene rather than in only a select few genes. Because most known pathogenic variant(s) that cause disease occur in exons, WES is thought to be an efficient method to identify possible disease-causing pathogenic variant(s). Whole genome sequencing (WGS) sequences an individual's entire genome. It determines the order of all the nucleotides (the DNA building blocks) in an individual's DNA and can determine variations in any part of the genome. WES may potentially miss a pathogenic variant(s) in a non-coding region of the genome, therefore WGS may be used in selected cases if initial exome sequencing is not diagnostic. While WGS can accurately achieve copy number variation (CNV) detection, the use of chromosomal microarray analysis (CMA) continues to be the gold standard. Whole exome sequencing (WES) or whole genome sequencing (WGS) may be appropriate when there is no known cause of a patient's symptoms (e.g., prematurity, trauma, environmental, infectious, maternal immune disorder), clinical
1 Genetic Testing: Whole Exome Sequencing and Whole Genome Sequencing
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