Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders. In WES, protein-coding regions of all nuclear and mitochondrial genes (~20,000) of the human genome, ie, exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-causing mutations are located there.

WES is most suitable for studies of:

• Individuals with complex phenotypes
• Genetically heterogeneous disorders
• Suspected genetic disorders where a specific genetic test is not available

Blueprint Genetics Whole Exome assay has been developed by generating high-quality and uniform sequencing data. The sequencing data are analyzed using an in-house, state-of-the-art bioinformatics pipeline.

Research studies on the human exome might be very challenging due to its complexity. Together with Blueprint Genetics you can continue to push the boundaries of our understanding of the human exome, which may lead to significant breakthroughs in science and medicine, offering profound insights into human biology and disease.

Why whole-exome sequencing?

Our next-generation sequencing (NGS) exome studies offer several benefits:

• Highest quality performance using NGS,with uniform and deep sequencing coverage to ensure reliable results, including full mitochondrial genome data
• Conventional raw data file types, allowing for smooth data analysis using accessible software against the vast body of genetic research
• Scientific expertise, in a certified laboratory with over 13 years of experience in rare disease diagnostics, including possible support in result interpretation
• Secure data delivery of large volumes in a short amount of time to propel timely analysis and findings
• Dedicated Project Coordinator with flexible, dynamic service solutions to help propel your tudy forward

These benefits make NGS exome studies a valuable tool for advancing our understanding of genetics and improving healthcare outcomes.

Blueprint Genetics WES standard package

*Turnaround time is calculated from the time the sample is received in the laboratory with all required information.

Available sequencing data file types:

• FASTQ
• BAM
• VCF
• Additionally: md5sum file for confirming the integrity of the downloaded vcf and BAM file(s)

Your data will be available for download for 30 days after it’s generated.

You are the sole data owner and controller. You operate as the controller, and Blueprint Genetics will not use sequencing data for any other purposes than to perform the service. For more information on data protection and privacy, click here.

For further questions and custom projects, please contact your designated service support at sequencing@BlueprintGenetics.com