16 Facts About Exome sequencing

Exome sequencing, known as whole exome sequencing, is a genomic technique for sequencing all of the protein-coding regions of genes in a genome .

Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic.

Exome sequencing is especially effective in the study of rare Mendelian diseases, because it is an efficient way to identify the genetic variants in all of an individual's genes.

Exome sequencing is increasingly used to complement these other tests: both to find mutations in genes already known to cause disease as well as to identify novel genes by comparing exomes from patients with similar features.

The first target enrichment strategy to be applied to whole exome sequencing was the array-based hybrid capture method in 2007, but in-solution capture has gained popularity in recent years.

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In contrast, the high-throughput sequencing technologies used in exome sequencing directly provide the nucleotide sequences of DNA at the thousands of exonic loci tested.

Exome sequencing is only able to identify those variants found in the coding region of genes which affect protein function.

Statistical analysis of the large quantity of data generated from Exome sequencing approaches is a challenge.

Various Exome sequencing technologies have different error rates and generate various read-lengths which can pose challenges in comparing results from different Exome sequencing platforms.

Whole genome Exome sequencing is a potential method to assay novel variant across the genome.

The exome sequencing has been reported rare variants in KRT82 gene in the autoimmune disorder Alopecia Areata.

Exome sequencing provides high coverage variant calls across coding regions, which are needed to separate true variants from noise.

Exome sequencing revealed an unexpected well-conserved recessive mutation in a gene called SLC26A3 which is associated with congenital chloride diarrhea .

Exome sequencing can be used to diagnose the genetic cause of disease in a patient.

Researchers have used exome sequencing to identify the underlying mutation for a patient with Bartter Syndrome and congenital chloride diarrhea.

Researchers at University of Cape Town, South Africa used exome sequencing to discover the genetic mutation of CDH2 as the underlying cause of a genetic disorder known as arrhythmogenic right ventricle cardiomyopathy ‚ which increases the risk of heart disease and cardiac arrest.