We’re here to unlock the secrets of RNA to help bring diagnosis closer to patients and their families .
We created Frontier Genomics to empower the clinical genomics community, to facilitate confident action in support of patients and families living with inherited disease.
Read our storyOur founding
Frontier Genomics evolved from the work of Professor Sandra Cooper who, like many, was frustrated with the inability of in-silico splice prediction tools to help resolve a significant diagnostic black hole in clinical genetics – Pre mRNA splicing variants.
Despite remarkable advances in genomic sequencing, more than half of individuals that undergo genetic testing remain undiagnosed. Prof. Cooper’s research, and that of others, show that splicing variants are a common cause of genetic disorders. However, interpreting the impact of splicing variants remains an enduring unsolved challenge for molecular diagnostic laboratories.
Growth & beyond
Prof. Cooper’s research program has identified novel biomarkers of splicing strength and established groundbreaking “Rules of Splicing Logic’, that can distinguish a Splice-Neutral from a Splice-Altering variant with extraordinary accuracy.
Prof Cooper’s Genomic Informatics team then set out to translate this knowledge into a Clinical Decision Support solution with the specific pathology requirements of ACMG-AMP variant classification in mind.
Next steps
And so we created GENEie®, the first evidence-based software for accurate, confident, clinical interpretation of extended splice-site variants.
GENEie intelligent evidence incorporates these rules of splicing logic into a first-in-class meta-analytical method that has the power to transform the molecular diagnostic odyssey by producing ACMG-aligned clinical evidence that supports variant-disease association.
But GENEie® is only the first step in unleashing RNA Analytics. We have applied the GENEie® analytical platform to numerous downstream challenges, expanding insights into clinical variant interpretation.