card-3216_Biochemistry expert scientific with eyeglasses
Digital innovation

Driving operational improvements and quality of our services

 card-3210_Laboratory technicians conduct a series of tests on a chemical analyzer
Science Innovation

Uniquely positioned to shape, validate, and deliver biomarker assessments that strive to improve patient outcomes across diverse Therapeutic Areas

 card-3242_Scientist using tablet while colleagues working behind
Download our Corporate brochure

We are IQVIA Laboratories, a leading clinical trial laboratory services organization with end-to-end laboratory services and secure, enterprise-wide biospecimen and consent management solutions.

Download card-3233_Laboratory scientist working at lab with micropipette, and 96 well plate
Corporate Video

Our commitment to customer success is embedded in every facet of our operations.

 card-3210_Laboratory technicians conduct a series of tests on a chemical analyzer
Science Innovation

Uniquely positioned to shape, validate, and deliver biomarker assessments that strive to improve patient outcomes across diverse Therapeutic Areas

 card-3216_Biochemistry expert scientific with eyeglasses
Digital Innovation

Driving operational improvements and quality of our services
WE'RE HIRING

Improving human health requires brave thinkers who are willing to explore new ideas and build on successes. Unleash your potential with us.

Search jobs website-featured_jpg-2213_cheerful-young-colleagues-using-laptop
Download our Corporate brochure

We are IQVIA Laboratories, a leading clinical trial laboratory services organization with end-to-end laboratory services and secure, enterprise-wide biospecimen and consent management solutions.

Download card-3242_Scientist using tablet while colleagues working behind
3233_discovery

Discovery Sciences

Our labs bring expertise in protein production, antibody discovery, and immunogenicity to help you select the most promising candidates and reduce risk as you move toward IND-enabling studies.
3235_biomarkers

Biomarker analysis

a CLIA-certified biomarker testing laboratory developing immunoassays used to quantify protein biomarkers in support of drug mechanism of action, pharmacodynamic, prognostic, and predictive clinical studies across all stages of drug discovery and development.
2768_CentralLaboratory

Central laboratories

Meeting the demands of today’s drug, device and diagnostics development environment requires a next generation service provider.
3253_bioa

Bioanalytical services

One of the world's largest and most respected bioanalytical and ADME laboratory networks. From our global locations, we serve many of the largest pharmaceutical, specialty pharmaceutical and biotechnology companies worldwide.
182_genomics-1

Genomics

We offer a range of genomic laboratory services to support drug discovery, precision medicine and clinical development. Our industry-leading team advances research by delivering scientific insights that help clients maximize the value of their data.
3214_vaccines

Vaccines

Combining cutting-edge technology platforms and state-of-the-art laboratories with over 35 years of clinical vaccine development.
card-3242_Scientist using tablet while colleagues working behind

Digital innovation

We have a dedicated Digital Innovation department focused on driving operational improvements and quality of our services. We’ve helped create agile and impactful solutions across the organization with the underpinnings of traceability, productivity, quality, and efficiency.
2768_therapeutic_expertise

Therapeutic expertise
Contact Us
English You are about to exit for another IQVIA country or region specific website Please be aware that the website you have requested is intended for the residents of a particular country or region, as noted on that site. Ok Open in new tab Search

Insight

Verified Genomic Reference Samples for Testing Low to Very Low AF Small Variants in OncoPanels and Liquid Biopsy Assays

2021 AMP Reference Forum Presentation by Wendell Jones
Home / Insights / Verified Genomic Reference Samples for Testing Low to Very Low AF Small Variants in OncoPanels and Liquid Biopsy Assays

Although reference samples with known ground truth regarding variants have been around for a while (NIST genome-in-a-bottle samples, HapMap samples, etc.), none have variants in large number (thousands) that are also low-frequency (like somatic variants observed in cancer).

This presentation, given at the 2021 AMP Reference Forum, discusses, highlights results from an effort by the FDA-led Sequencing and Quality Controls Phase 2 (SEQC2) consortium to characterize tens of thousands of low frequency variants in the DNA companion to Agilent’s Universal Human Reference RNA, an already established reference sample. This DNA reference sample and the sequence data generated from it are useful in multiple contexts: determining general limits of detection of oncopanel and liquid biopsy assays; proficiency testing; genomic oncology assay development, evaluation, and validation; complex biomarker evaluation (eg. Tumor Mutational Burden); and bioinformatic variant-calling pipeline development.

Download and review the presentation to learn more.