Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.

ABSTRACT: Precision medicine strives for highly individualized treatments for disease under the notion that each individual's unique genetic makeup and environmental exposures imprints upon them not only a disposition to illness, but also an optimal therapeutic approach. In the realm of rare disorders, genetic predisposition is often the predominant mechanism driving disease presentation. For such, mostly, monogenic disorders, a causal gene to phenotype association is likely. As a result, it becomes important to query the patient's genome for the presence of pathogenic variations that are likely to cause the disease. Determining whether a variant is pathogenic or not is critical to these analyses and can be challenging, as many disease-causing variants are novel and, ergo, have no available function

SUBMITTER: Hopkins CE 

PROVIDER: S-EPMC10073243 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature