Archipelago Method for Variant Set Association Test Statistics.

ABSTRACT: Variant set association tests (VSAT), especially those incorporating rare variants via variant collapse, are invaluable in genetic studies. However, unlike Manhattan plots for single-variant tests, VSAT statistics lack intrinsic genomic coordinates, hindering visual interpretation. To overcome this, we developed the Archipelago method, which assigns a meaningful genomic coordinate to VSAT P values so that both set-level and individual variant associations can be visualised together. This results in an intuitive and information rich illustration akin to an Archipelago of clustered islands, enhancing the understanding of both collective and individual impacts of variants. We conducted three validation studies spanning simulated and real datasets across small and biobank-scale cohorts, from 5

SUBMITTER: Lawless D 

PROVIDER: S-EPMC12771271 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature