Whole Exome Sequencing (WES)

Whole Exome Sequencing (WES)

Regular price
$0.00
Regular price
Sale price
$0.00
Unit price
per 
Availability
Sold out

WES is one of the most common targeted sequencing methods. The exome – protein coding region of the genome – represents <2% of the genome and contains ~85% of disease-causing genetic alterations. 

Compared to WGS, WES is inexpensive and effective in detecting SNPs, Indels, SVs and CNVs across coding regions. It facilitates the discovery of novel genomic variations and investigation of medical relevant genomic regions. WGS compares the individual’s genomic sequence to a reference genome to identify genetic alterations specific to the individual – usually in the form of single nucleotide polymorphisms (SNPs), insertion/deletion (Indels), structural variation (SV) and copy number variation (CNV).