Ontology highlight
ABSTRACT:
SUBMITTER: Carlin DE
PROVIDER: S-EPMC10212185 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Carlin Daniel E DE Larsen Simon J SJ Sirupurapu Vikram V Cho Michael H MH Silverman Edwin K EK Baumbach Jan J Ideker Trey T
PloS one 20230525 5
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 genes implicated by those variants. Here we introduce a concise one-step approach, H ...[more]