Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening data

2025-10-13 genetic and genomic medicine Title + abstract only

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Accurate estimates for the prevalence of rare congenital diseases are critical for understanding disease epidemiology and enabling drug development. Prevalence estimates can inform public health investment, identify communities with high disease burden or underdiagnosis, and reveal areas of unmet clinical need. With the advent of global-scale biobanks, genetics-based models to estimate the prevalence of disease have become viable. Autosomal recessive (AR) rare diseases are particularly tractabl...

Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening data

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