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Article

A scalable approach for genomic-first rare disorder detection in a healthcare-based population.

American journal of human genetics - 6 Nov 2025

Torene Rebecca I, Murphy Karyn Meltz, Brandt Tracy, Kelly Melissa A, Willard Huntington F, Retterer Kyle

Abstract excerpt

Our understanding of rare genetic disorders (RGDs) comes largely from clinically ascertained individuals. Genomic-first ascertainment, however, can identify individuals with monogenic RGDs who were not ascertained clinically and enhance our understanding of the phenotypic spectrum, penetrance, and prevalence of RGDs. Although genomic ascertainment of RGDs at scale presents several challenges, it offers the...

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PMID: 41056947
DOI: 10.1016/j.ajhg.2025.09.010
PMCID: PMC12808950

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