Article

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

2025-10-13

Abstract excerpt

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 ha...

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Literature Corpus work: f28675a2-ca30-587a-8d90-5697a2a1ae4b
DOI: 10.1101/2025.10.11.25337773

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