Article
Genotype first: Clinical genomics research through a reverse phenotyping approach.
American journal of human genetics - 5 Jan 2023
Wilczewski Caralynn M, Obasohan Justice, Paschall Justin E, Zhang Suiyuan, Singh Sumeeta, Maxwell George L, Similuk Morgan, Wolfsberg Tyra G, Turner Clesson, Biesecker Leslie G, Katz Alexander E
Abstract excerpt
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:...
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