Researching DNA biomarkers can be challenging task. The relationship between genotype and phenotype is rarely one dimensional. To begin with, genes have pleiotropic effects, are subject to epistatic influences and are epigenetically regulated. Then there are environmental modulators that impact how a genetic polymorphism may ultimately influence a phenotype. Finally there are confounders of age, sex, ethnicity and underlying health conditions that must be take into account. With a dynamic knowledge landscape composed of published, peer-reviewed research based on different experimental designs from various laboratories around the world that are not always in agreement, it is essential to use an evidence-based methodology to assess and grade the evidence that supports the relationship between a genotype and phenotype.
DNAIQ Integrated Discovery is a biomarker research platform designed to rapidly analyse large NCBI PubMed datasets. A key feature is an AI engine that searches each found abstract to determine the direction and magnitude of the trait association with the biomarker of interest.
We use a subset of this tool within our personal genome research application, gene.codes .