Exome Sequencing

Exome sequencing, also known as targeted exome sequencing, is a high-throughput sequencing technique that focuses on sequencing only the protein-coding regions of the genome, known as the exome. The exome represents the portion of the genome that codes for proteins, which are the building blocks of cells and play a crucial role in various biological processes.

Compared to whole genome sequencing (WGS), which involves sequencing the entire genome, exome sequencing selectively targets the exonic regions, which constitute only about 1-2% of the genome. This approach significantly reduces the cost and complexity of sequencing while still capturing the majority of disease-causing mutations.

Whole Exome

Whole exome sequencing (WES) is a technique used in genetics and genomics research to analyze the protein-coding regions of an individual's genome, known as the exome. The exome represents approximately 1-2% of the entire genome but contains the vast majority of disease-causing mutations.

Whole exome sequencing allows researchers and clinicians to study a broad range of genetic variations in protein-coding regions, including both known and novel variants. It is particularly useful in identifying genetic causes of rare diseases and understanding the genetic basis of complex disorders.

Whole Exome Test:

A small amount of biological material, usually blood or tissue, is collected from the individual undergoing sequencing. This sample contains DNA, which carries genetic information. The DNA is isolated from the collected sample using various laboratory techniques.

Next, the exome is enriched or captured from the total genomic DNA. This involves using a method to selectively target and capture the exonic regions of DNA. This can be done using various approaches, such as hybridization capture or amplification-based methods. The captured DNA fragments are then sequenced using high-throughput sequencing technologies, such as next-generation sequencing (NGS). This generates short DNA sequences, known as reads.

The generated reads are aligned to a reference genome to determine their original location. This step involves comparing the reads to a known reference sequence to identify differences or variations (known as variants) in the DNA sequence. The identified variants are analyzed to determine their potential significance. This involves comparing the variants to existing databases and scientific literature to assess their impact on genes and their potential association with diseases or conditions.