{"id":9003,"date":"2022-11-04T08:33:00","date_gmt":"2022-11-04T07:33:00","guid":{"rendered":"https:\/\/adntro.com\/?p=9003"},"modified":"2025-11-10T09:55:03","modified_gmt":"2025-11-10T08:55:03","slug":"exoma-completo","status":"publish","type":"post","link":"https:\/\/adntro.com\/en\/blog\/salud\/exome-complete\/","title":{"rendered":"Whole exome sequencing"},"content":{"rendered":"

Whole exome sequencing (WES) is one of the most popular next-generation sequencing (NGS) methods in use today for the detection of genetic variants<\/strong>. WES uses specific technology to capture approximately 1% of the entire human genome<\/a> (the human exome).<\/p>\n\n\n

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What is whole exome sequencing?<\/strong><\/h2>\n\n\n\n

Whole-exome sequencing refers to the capture of the coding region (exonic region<\/b>) of the genome. This method focuses on the protein-coding region<\/b> of DNA, which makes up approximately 1% of the entire genome (1% of millions of DNA \"letters\").<\/p>\n\n\n\n

Exomes are sequenced because they contain many of the genetic variants associated with common diseases. These include single nucleotide polymorphisms (SNP<\/a><\/strong>), variation in the number of copies (CNV<\/strong>), structural variants (SV<\/strong>) and detection of SNV<\/strong> (single nucleotide variants).<\/p>\n\n\n\n

In addition, exome sequencing allows us to identify rare variants<\/b>, which are less frequent than SNPs but occur much more frequently than CNVs and SVs. Rare variants are responsible for Mendelian disorders (genetic diseases), some cancers and complex diseases like diabetes and autism.<\/p>\n\n\n\n

What is the difference between whole exome sequencing (WES) and whole genome sequencing (WGS)?<\/strong><\/h2>\n\n\n\n

Whole Genome Sequencing<\/a> sequences the entire genome<\/b> (DNA samples are required) to provide a full picture of the entire human genome. In contrast to whole-genome sequencing<\/b>, WES involves sequencing only the protein-coding portion<\/b> of the genome (the exons) allowing to exclusively detect exome variants.<\/p>\n\n\n

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Whole exome sequencing is an important powerful tool to identify disease-causing mutations<\/strong>. This method allows researchers to identify the underlying cause of a patient's symptoms without having to sequence every gene in his or her body. However, it has some limitation. While whole genome sequencing is effective in detecting large deletions, duplications and chromosomal rearrangements, WES cannot detect these types of alterations.<\/p>\n\n\n\n

However, both technologies are valid for clinical diagnostics<\/strong>.<\/p>\n\n\n\n

How does whole exome sequencing work?<\/strong><\/h2>\n\n\n\n

The process begins with DNA sample extraction. This step isolates the genetic material from cells, including both nuclear and mitochondrial DNA. Next, it uses PCR technology to amplify the extracted DNA into millions of copies. After purifying and concentrating the amplified product, it attaches adapters to each end of the fragments. These adapters help prepare the DNA for sequencing by adding indexes that identify the specific fragment being sequenced. Finally, the purified DNA is loaded and the exonic regions undergoes massively parallel sequencing.<\/p>\n\n\n\n

What are the benefits of whole exome sequencing?<\/strong><\/h2>\n\n\n\n

Whole-exome sequencing is a less costly way of identifying genetic variations associated with genetic diseases<\/b>. Exomes are particularly useful for individuals whose family history suggests a strong likelihood of inherited diseases.<\/p>\n\n\n

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The process involves isolating the DNA from a patient sample and preparing it for next-generation sequencing. Next, researchers use high throughput technologies to sequence each individual base pair within the targeted gene region. The resulting information is used to identify mutations that are linked to specific disorders.<\/p>\n\n\n\n