AI-Supported Genetic Data Analysis Platform

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  • İncek Bul. Kızılcaşar Mh. 1213. Sk. No:24 Gölbaşı / ANKARA
  • +90 (312) 440 96 61
  • [email protected]

What is Whole Exome Sequencing?

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Exome sequencing is an advanced genetic testing method that sequences only the exons of the genome— the protein-coding regions that account for about 1-2% of your entire DNA. Despite their small proportion, exons play a crucial role in determining most of an organism’s traits and susceptibility to diseases. This highly efficient method allows for the identification of genetic variants linked to a wide range of inherited diseases and conditions, offering valuable insights into your genetic health.

Unlike whole genome sequencing (WGS), which analyzes the entire genome, exome sequencing specifically targets the parts of the genome most directly involved in protein production. By focusing on these critical regions, exome sequencing provides a faster, more cost-effective solution for diagnosing genetic disorders, including those that are rare or complex. 

Through detailed bioinformatics analysis, we help uncover genetic variants that may be responsible for diseases, offering more targeted and accurate diagnostic information. In clinical settings, it helps diagnose genetic conditions that are difficult to detect with traditional methods, guiding doctors in developing personalized treatment plans

Precise Identification of Disease-Related Variants

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All Your Questions Answered About Our WES Service!

Exome sequencing is the process of sequencing only the protein-coding regions of an organism's entire DNA. Although exons make up only about 1-2% of the genetic material, most diseases and biological functions are linked to genetic variations in these regions. After DNA is collected, these protein-coding regions are sequenced, and genetic variants are identified through bioinformatics analysis.

Exome sequencing is a more cost-effective and faster alternative to whole genome sequencing (WGS). Instead of sequencing the entire genome, it targets only the protein-coding regions, providing results in a shorter time. It also offers higher accuracy in diagnosing genetic disorders. Exome sequencing is more efficient in detecting genetic diseases, making it an ideal solution for most clinical applications.

Exome sequencing is used to diagnose a wide range of genetic-based diseases. These include:
✔️ Rare Genetic Disorders: Diseases that manifest from birth or have a genetic origin
✔️ Cancer Genetics: Investigating the relationship between genetic mutations and cancer
✔️ Neurological Disorders: Neurodegenerative diseases like Alzheimer’s and Parkinson’s
✔️ Hereditary Metabolic Disorders: Diseases like phenylketonuria and albinism
✔️ Vision and Hearing Loss: Genetic-related vision or hearing impairments

Exome sequencing usually takes between 3 to 6 weeks to complete. After sample collection, DNA preparation, sequencing, and bioinformatics analysis take time. Additionally, quality control steps are implemented to ensure the accuracy of the results. The results are delivered to you in the specified format as soon as possible.

WGS results are delivered in the following formats:
✔️ FASTQ: Raw sequencing data
✔️ BAM: Mapped genome data
✔️ VCF: Variant (mutation) analysis file Additionally, bioinformatics analysis reports and interpreted genetic data can be provided upon request.

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