Advancing genomic research and discovery for all
As we’ve evolved from rare disease specialists to a global leader in genomics, one thing hasn’t changed: our ability to translate insights drawn from cutting-edge research into more diagnostic opportunities in a responsible way. Our discoveries today fuel the industry’s understanding of genetic disease diagnosis and pave the way for better patient care, treatments, and outcomes tomorrow.
Pushing past today’s barriers. Leading by example.
Through an ever-expanding network of collaborations with academics, clinicians, and patient advocacy groups, our research team furthers their work on candidate genes. Since 2012, we have contributed to the identification of over 200 peer-reviewed novel disease genes. Each discovery in the research setting can potentially be applied to the clinical setting, leading to the future development of new or improved treatments and better patient care and outcomes.
Here’s what we’ve been working on
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
In collaboration with Geisinger, we identified a strong link between genetic changes known to cause neurodevelopmental disabilities and cerebral palsy (CP). In our JAMA publication, we found that when the genetic change that causes CP is inherited from one or both of the parents the risk for recurrence increases to 50% and 25%, respectively.
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Published in Nature, our collaborative study with the Wellcome Sanger Institute and Radboud University Medical Center identified 285 genes linked to developmental disorders, 28 of which were newly-associated, and will enable diagnoses for ~500 families with children afflicted by rare conditions.
Mobile element insertion detection in 89,874 clinical exomes
In this Genetics in Medicine publication, we demonstrated the diagnostic value of applying mobile element insertion (MEI) detection to exome sequencing. We developed a custom MEI detection tool called SCRAMble (Soft Clipped Read Alignment Mapper) for application to targeted capture sequencing and revealed molecular findings that were previously undetected by other sequencing assays.
Purpose-built to fuel discovery
Based in Gaithersburg, MD, our 90,000 square-foot facility is equipped with the regulatory-compliant instrumentation our team needs to solve previously-undiagnosed cases. Using the latest technology, we identify difficult-to-detect variants and produce the highest quality test results.
Proprietary Bioinformatics Tools
- Custom data processing methods and analytical pipelines for NGS, aCGH, MLPA, Sanger, and other genomic data, optimized and validated to the highest performance standards.
- SCRAMble: a novel detection method to uncover notoriously difficult to detect sequence variants called mobile element insertions and partial-exon deletions (https://github.com/GeneDx/scramble)
- Custom variant analysis platforms built from the ground up for exome and genome-scale data interpretation.