Patient Alleles Analysis
Accelerate your diagnosis with rapid clinical variant prototyping
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1. Provide information about your patient’s exact genetic allele in a whole organism context to help you decide what to do next
2. Perform Clinical Variant Phenotyping using precision humanization of model systems to:
- Assign pathogenicity status to patient alleles.
- Identify therapeutic agents for reversing pathogenicity
How it works:
- Humanize an organism with the specific human gene and insert your allele of interest.
- Create appropriate control strains.
- Confirm all strains via sequencing and other QC.
- Assess transgenic strain(s), wild type(s), and controls using 1 or more phenotypic assays.
Analysis delivered to you:
- Raw data for each assay
- % similarity to wide type overall
- % similarity to wide type for each assay
- Transgenic worm or zebrafish (if desired)
Benign or Pathogenic? Assessing Genetic Variants Using “Precision Humanization” of Small Animal Models
The age of genomic and precision medicine is revolutionizing medical practices, but it is also revealing gaps in our knowledge of genetics. Each individual’s genome harbors a significant number of unique alleles that may impact the individual’s health in unpredictable ways. These are the clinical Variants of Uncertain (or Unknown) Significance (VUS). How do the physician and clinical geneticist make decisions in this noisy background when trying to determine whether the gene mutation seen in the patient is benign or pathogenic?
