Exome Sequencing

Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome, known as the exome. It is a widely used next-generation sequencing method that involves sequencing the protein-coding regions of the genome, which represent less than 2% of the genome but contain approximately 85% of known disease-related variants. This technique is especially effective in the study of rare Mendelian diseases, as it is an efficient way to identify the genetic variants in all of an individuals genes. Exome sequencing can be used to diagnose the genetic cause of a disease in a patient, which can have major implications for diagnostic and therapeutic approaches, guide prediction of disease natural history, and make it possible to test at-risk family members. However, it is important to note that exome sequencing is only able to identify variants found in the coding region of genes that affect protein function and cannot identify structural and non-coding variants associated with the disease, which can be found using other methods such as whole genome sequencing.

Whole exome sequencing is increasingly used in healthcare and research to identify genetic variations, and it is particularly useful for patients whose medical and family histories suggest a genetic cause for their signs and symptoms. It is a type of genetic sequencing that is used to understand what may be causing symptoms or a disease, and it is mainly recommended for patients who have a family history of disease or are searching for a diagnosis to explain symptoms. As exome sequencing becomes more common, its costs are expected to drop, and its availability will likely increase, potentially joining the ranks of routine genetic tests already widely available.

In summary, exome sequencing is a powerful tool for identifying genetic variants in protein-coding regions of the genome, particularly in the context of rare Mendelian diseases, and it has the potential to significantly impact diagnostic and therapeutic approaches for patients with genetic conditions.