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Article

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.

Human genetics - 1 Jun 2015

Schrodi Steven J, DeBarber Andrea, He Max, Ye Zhan, Peissig Peggy, Van Wormer Jeffrey J, Haws Robert, Brilliant Murray H, Steiner Robert D

Abstract excerpt

Genetic methods can complement epidemiological surveys and clinical registries in determining prevalence of monogenic autosomal recessive diseases. Several large population-based genetic databases, such as the NHLBI GO Exome Sequencing Project, are now publically available. By assuming Hardy-Weinberg equilibrium, the frequency of individuals homozygous in the general population for a particular pathogenic allele...

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PMID: 25893794
DOI: 10.1007/s00439-015-1551-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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