Germline Sequencing

Mechanical DNA shearing with Covaris Adaptive Focused Acoustics® (AFA®) technology is the best choice for sample prep in germline testing, delivering precise control over fragment size, superior coverage and uniformity, and consistent, reproducible results to save your lab time and money.

The Best Choice for Sample Prep in Germline Sequencing

Germline sequencing has emerged as a crucial tool for evaluating an individual's susceptibility to specific diseases, particularly rare diseases and cancers, by analyzing inherited genetic variants. The detection of these variants commonly involves sequencing the whole genome or exonic regions, either across all transcripts or a selected subset. Germline sequencing requires a robust workflow to ensure downstream data integrity. The process of DNA shearing in NGS is pivotal, and the chosen method for this step can profoundly influence sequencing outcomes, affecting data quality, workflow efficiency, and sequencing costs. 

The Benefits of Covaris

Graphic stating superior sample batch uniformity, three times better fold enrichment, and save time and costs

 

Get More from Your Flow Cell with 3x Higher Fold Enrichment 

In NGS workflows, mechanical shearing with Covaris Adaptive Focused Acoustics® (AFA®) technology has been shown to significantly improve target enrichment efficiency compared to enzymatic fragmentation.  
A higher fold enrichment indicates a greater prevalence of target DNA sequences, resulting in more uniform batches and a decrease in assay failure rates. This reliable and cost-effective solution for achieving high coverage across all exonic regions enables you to get more from your flow cell, providing savings and efficiency. 

Graph showing greater fold enrichment with Covaris mechanical shearing versus enzymatic fragmentation

Improve Data Quality with Lower Duplication Rates 

With lower duplication rates, Covaris delivers higher complexity libraries and provides higher coverage at the same sequencing depth as compared to enzymatically fragmented DNA. 

Graphic illustrating lower duplication rate and higher complexity level of Covaris method compared to competitors using enzymatic fragmentation

Eliminate Cross-Contamination 

Covaris’ automatable, non-contact workflow prevents the opportunity for cross-contamination, so there is no need to repeat experiments or worry about expensive sample replacement. Streamlined data processing and analysis ensure savings in both time and computational resources.  

Germline Testing

Achieve Consistent Insert Sizes Across Sample Types 

In a comparison with leading enzyme competitors, Covaris fragmentation with AFA was shown to provide consistent DNA fragmentation regardless of sample origin. A tunable process provides reproducible library preparation that is easy to implement across sample types [1].
Furthermore, insert size significantly impacts enrichment results [2], and the accurate size selection can boost sequencing efficiency, save money, improve assemblies, and even allow sequencing of low-input samples.
Germline Sequencing example diagram
Want to learn more about how Covaris can help you with your germline sequencing workflow? Contact us now!

“[M]echanical shearing really decreased our complexities at scale…. We now have multiple R230 devices that drive the beginning stage of our library preparation and decrease the complexity that we saw with enzymatic shearing.”
Matthew C. Gallen, MPH

Scientific Director, Advanced Diagnostics, Molecular Genomics and Oncology R&D, Quest Diagnostics

Resources

References

    1. Gallen, M and Serra, R. Quest Diagnostics with Covaris launches automated NGS platform, optimizing workflows to maximize lab economics. Webinar on September 7, 2023. View Now
    2. Krasnenko, et al., Effect of DNA insert length on whole-exome sequencing enrichment efficiency: an observational study. Advances in Genomics and Genetics 2018: 8 13–15. Read Now [Dove Press]