What is Whole Exome Sequencing?

Whole exome sequencing (WES) is a targeted DNA sequencing method that allows researchers and clinicians to rapidly sequence all of the protein-coding portions, or exons, of genes within a person's genome. The exome refers to approximately 1-2% of the human genome that contains exons, which are the portions of genes that carry the genetic code used to make proteins. By focusing on just the exome, WES allows for an in-depth interrogation of the genes that are most relevant to human traits and disease.

The Exome Provides Important Clues

While the entire genome contains a wealth of information, it is within the exome where many important disease-causing genetic changes are likely to be found. Most known disease-causing mutations directly impact proteins by altering their structure or function. Since exons are the DNA segments that code for proteins, focusing sequencing efforts on the exome provides an efficient way to identify mutations that may explain disease. Whole Exome Sequencing has proven instrumental in elucidating the genetic causes of many rare diseases that have long eluded researchers. By analyzing the exomes of affected individuals and their family members, patterns of mutations shared among related individuals but not present in unaffected relatives can help pinpoint the causal genetic change.

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