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Exome sequencing

Exome sequencing is a genomic technique to determine the nucleotide sequence of the exonic (protein-coding) region of genes within a genome. It is also be referred to as whole-exome sequencing (WES). This process is done by selectively sequencing only the subset of DNA that encodes the protein using high-throughput DNA sequencing technology.

Whole exome sequencing is the sequencing all of the exons (protein-coding sections) of genes within a genome. This method allows variations in the protein-coding region of any gene to be identified, rather than in only a select few genes.

First, either PCR or hybrid capture is used to capture the exonic region of the species of interest. This enriched fraction is then sequenced using next-generation sequencing technology to identify genetic variation in the exon sequences.

Exome sequencing allows for the identification of variations in the entire exon, as opposed to a select few genes. Since most known disease-causing mutations occur in exons, WES is an efficient way of identifying potential disease causing mutations.

Clinical exome sequencing is a molecular diagnostic genetic test to rapidly and efficiently detect disease-casusing mutations within any gene in the human genome. It uses exome sequencing to target genes associated with all known clinical phenotypes.

Genome sequencing is the sequencing of the complete DNA of an organism. Exome sequencing only focuses on the protein-coding sections of DNA that are contained in our genes. Whole Exome Sequencing (WES) is more cost and time efficient than genome sequencing.