Whole Exome

Sequencing

Identify disease variants with efficiency and cost-effectively

What is Whole
Exome Sequencing?

Whole exome sequencing (WES) investigates the protein coding regions, or exons, in a genome collectively known as the exome. There are approximately 180,000 exons which represent less than 2% of the human genome. As most disease-related variants are found in exons, WES is an efficient method to understand the genetic cause of diseases or conditions. where an estimated 85% of disease-causing mutations are suspected to originate. WES identifies variant types including SNVs, indels, runs of homozygosity and mosaic variants. Whole exome sequencing is a more cost-efficient alternative to whole genome sequencing. 

Service Features

Superior Data Quality
Our rigorous, multi-stage workflow, combined with advanced quality control checks and data analysis strategies, ensures you receive reliable, high-quality sequencing data for confident downstream analysis

Custom Coverage Depth
Achieve your research goals by choosing a sequencing depth tailored to your project's specific needs, either at our expert recommendation or to your exact specifications

Optimized Library Preparation
Receive high-quality data and a high success rate even with low-input samples, thanks to our expertly optimized and robust library preparation protocols.

Exceptional DNA Extraction
Leverage our superior DNA extraction methods, which include the BioEcho FFPE DNA kit for high-yield, high-quality DNA from challenging formalin-fixed paraffin-embedded samples

High-Throughput Capabilities
We are equipped to handle projects of any scale, from a few samples to thousands, with efficient and consistent processing for timely delivery of results

Whole Exome Sequencing Applications

WES in oncology

Analyze tumor and normal tissue to identify somatic mutations and other genomic alterations that drive cancer development and progression

Cancer Research

identify disease variants

Find rare and novel genetic mutations within the protein-coding regions of the genome that are responsible for hereditary and complex diseases

Identify Disease-Causing Variants

Pinpoint gene variants associated with drug response and resistance, helping to inform the development of more effective and targeted therapies

Drug Discovery

Identifying pathogenic variants responsible for undiagnosed or inherited disorders, especially in family-based or trio studies

Rare Disease
Research

Whole Exome Sequencing In Action

Admera Health provides comprehensive support for all projects, and delivers publication-ready data. Discover how researchers are using WES solutions at Admera Health to advance their studies.

View publications

Sending samples?

See our DNA sample submission guideline for sample preparation, packing, and shipping instructions.

Download guide

Get the Most out of Your Study

Maximize your project’s potential with advanced whole exome sequencing data analysis solutions. Our team of expert bioinformaticians curate pipelines tailored to your project’s experimental design.

Data Analysis Services