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Ambry Classifi®

Where Ambry’s expertise and approach bring our mindset to life: to relentlessly pursue the answers for patients and families.

What Is Classifi®?

Classifi® is how we operationalize our longstanding promise to deliver the highest quality results, for all. It connects work across our teams—from gene classification and variant analysis to interpretation, reporting, and follow-up studies—into a unified engine that resolves uncertainty and supports clinical action.

We’ve put a name to the layers of expertise, process, and cutting-edge technology that have set Ambry apart in the industry for over 25 years. Every test, every answer is backed by our unshakable commitment to leaving no stone unturned for patients and families.

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How Classifi® Works

Embedded into Ambry’s operations, Classifi® includes our proprietary, knowledge-driven engine for gene-disease validity, variant curation and structural biology, RNA and follow-up studies to resolve variants of unknown significance (VUS), and our Patient for Life program.

Classifi® embodies our mindset and the way we share data, lead with expertise, and collaborate for the benefit of all.

Expertise that Sets Industry Standards

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Precision in Gene-Disease Associations

Understanding gene-disease validity is critical to offering reliable results that inform patient care. We have invested in a dedicated team of scientific experts specializing in this work. This expertise allows us to design products and processes that minimize VUS, and also drive gene discoveries to resolve previously unsolved cases. [1] [2]

Together, we’ve developed the only clinical laboratory gene-disease validity assessment system published in peer-reviewed medical literature. [3]

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Innovation in Variant Classification

Expert variant classification is essential to resolving uncertain results. To achieve this, our proprietary bioinformatics and reporting tools integrate with a continuously curated knowledge database of scientific literature.

However, advanced tools are only as good as the experts interpreting the data. Our interdisciplinary team of variant scientists brings diverse expertise in nonsense-mediated decay, protein modeling, RNA, and splicing. Backed by a genetic counselor-led reporting team, we translate complex data into clinically actionable findings that prioritize patient care.

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Relentlessly Pursuing Answers to Resolve Uncertainty

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RNA Functional Studies

The Ambry Translational Genomics (ATG) laboratory utilizes cutting-edge techniques like targeted short- and long-read RNA sequencing to characterize how genomic variants impact gene expression, splicing, and more. These comprehensive RNA studies provide functional evidence needed to better clarify disease risk and impacts to patient management.

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Experimental and Computational Biology

When needed, our team performs structural assessment and uses custom validated in-silico software to harness the power of artificial intelligence and machine learning techniques to extract meaningful insights, predictions, and accuracy from complex data.

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Patient for Life™ Program

Ambry’s promise to patients and families searching for answers: we won’t stop looking. As science evolves and new discoveries emerge, we remain committed to uncovering insights that may help explain genetic test results over time.

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Our Team

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Diversity in Knowledge

Our interdisciplinary team of laboratory directors, bioinformaticians, structural biologists, and genomic sciences and curation program (GSCP) scientists offer unparalleled specialized expertise that spans diverse areas.
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Genetic Counselor Expertise

Our team includes 100+ board-certified genetic counselors seamlessly integrated into every aspect of our operations, with roles in accessioning, variant analysis, medical affairs, research, marketing, and product development.
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Committed to Collaboration

There is transformative potential in partnerships to advance genetic discoveries for all. Our extensive network of collaborators shows our longstanding commitment to collaborative research and data sharing. See a full list of our collaborations here.

Sharing Information to Benefit All

ClinVar

Believing in data-sharing from the start, we are proud to remain a leading contributor to ClinVar.

GenCC

Supporting this global effort to harmonize gene-level resources, we are the top contributor and part of the steering committee for GenCC.

Leadership

Active leadership in the genetics community, with involvement in 100+ professional orgs, guideline committees, expert panels, and working groups.

Publications

Continually publishing internal data and collaborating with others to share findings, with over 400 peer-reviewed publications and counting.

References
  1. Bean et al. Genet Med. 2020 Mar;22(3):453-461. doi: 10.1038/s41436-019-0666-z. Epub 2019 Nov 16.
  2. Farwell Hagman K et al. Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11.
  3. Smith ED et al. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.