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Article

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

American journal of medical genetics. Part A - 1 Feb 2025

Gimeno Alex F, Tinker Rory J, Furuta Yutaka, Phillips John A

Abstract excerpt

Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network (UDN) cohort in the post-exome-sequencing era. UDN subjects underwent genome sequencing before inclusion in the cohort. Records of all UDN subjects until January 2024 were analyzed. The number of diagnoses, proportion of molecular versus nonmolecular (i.e., not attributable to a discretely identifiable genetic change)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39333051
DOI: 10.1002/ajmg.a.63888
PMCID: PMC12234204

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