Researching DNA biomarkers can be challenging task. The relationship between genotype and phenotype is rarely one dimensional. To begin with, genes have [wiki title=”Pleiotropy”]pleiotropic[/wiki] effects, are subject to [wiki title=”Epistasis”]epistatic[/wiki] influences and are [wiki title=”Epigenetics”]epigenetically[/wiki] regulated. Then there are environmental modulators that impact how a genetic polymorphism may ultimately influence a phenotype. Finally there are [wiki title=”Confounding”]confounders[/wiki] 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 [wiki title=”Evidence-based medicine”]evidence-based[/wiki] 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 .