Statistical approaches for meta-analysis of genetic mutation prevalence.

ABSTRACT: Estimating the prevalence of rare germline genetic mutations in the general population is of interest as it can inform genetic counseling and risk management. Most studies that estimate the prevalence of mutations are performed in high-risk populations, and each study is designed with differing inclusion criteria, resulting in ascertained populations. Quantifying the effects of ascertainment is necessary to estimate the prevalence in the general population. This quantification is difficult as the inclusion criteria is often based on disease status and/or family history. Combining estimates from multiple studies through a meta-analysis is challenging due to the variety of study designs and ascertainment mechanisms as well as the complexity of quantifying the effect of these mechanisms. We p

SUBMITTER: Hujoel MLA 

PROVIDER: S-EPMC10391692 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature