Genotype first: Clinical genomics research through a reverse phenotyping approach.

ABSTRACT: Although genomic research has predominantly relied on phenotypic ascertainment of individuals affected with heritable disease, the falling costs of sequencing allow consideration of genomic ascertainment and reverse phenotyping (the ascertainment of individuals with specific genomic variants and subsequent evaluation of physical characteristics). In this research modality, the scientific question is inverted: investigators gather individuals with a genomic variant and test the hypothesis that there is an associated phenotype via targeted phenotypic evaluations. Genomic ascertainment research is thus a model of predictive genomic medicine and genomic screening. Here, we provide our experience implementing this research method. We describe the infrastructure we developed to perform reverse p

SUBMITTER: Wilczewski CM 

PROVIDER: S-EPMC9892776 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature