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Article

Hierarchical association of COPD to principal genetic components of biological systems.

PloS one - 1 Jan 2023

Carlin Daniel E, Larsen Simon J, Sirupurapu Vikram, Cho Michael H, Silverman Edwin K, Baumbach Jan, Ideker Trey

Abstract excerpt

Many disease-causing genetic variants converge on common biological functions and pathways. Precisely how to incorporate pathway knowledge in genetic association studies is not yet clear, however. Previous approaches employ a two-step approach, in which a regular association test is first performed to identify variants associated with the disease phenotype, followed by a test for functional enrichment within the...

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PMID: 37228113
DOI: 10.1371/journal.pone.0286064
PMCID: PMC10212185

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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