Frontier Genomics is a digital health company founded on robust research and cutting-edge science. We believe RNA is the key that unlocks the significant diagnostic challenges of genetic medicine.
Discoveries from our scientific research program allow us to objectively quantify relationships between DNA variants and pre-mRNA splicing. We have identified novel rules of splicing and derived analytical methods from observed tolerance in nature and intolerance in medicine.
We are translating these insights into software solutions that serve global clinical genetics communities. Our Clinical Decision Support software embody genetic pathology reasoning and the search for meaningful clinical evidence that supports variant interpretation.
Welcome to Frontier Genomics - shifting the paradigm of RNA variant interpretation.
GENEie® is the first evidence-based Clinical Decision Support software developed for accurate, confident, clinical interpretation of extended splice-site variants. Designed specifically for use in genetic pathology, GENEie empowers clinical decision making by producing ACMG-aligned clinical evidence that supports variant-disease association.
SpliceVault,a GENEie® module, predicts the precise nature of variant-associated mis-splicing, determining whether a splice altering variant will induce exon-skipping, cryptic activation or multiple events.
SpliceSight is a means of determining whether a splice altering variant will induce exon-skipping, cryptic activation or multiple events.
Cortar analyses RNA-sequencing data and statistically quantifies variant-associated splicing anomalies.