Application of qualifying variants for genomic analysis.

ABSTRACT:

Motivation

Qualifying variants (QVs) are genomic alterations selected by defined criteria within analysis pipelines. Although crucial for both research and clinical diagnostics, QVs are often seen as simple filters rather than dynamic elements that influence the entire workflow. In practice these rules are embedded within pipelines, which hinders transparency, audit, and reuse across tools. A unified, portable specification for QV criteria is needed.

Results

Our aim is to embed the concept of a "QV" into the genomic analysis vernacular, moving beyond its treatment as a single filtering step. By decoupling QV criteria from pipeline variables and code, the framework enables clearer discussion, application, and reuse. It provides a flexible reference model for integrating QVs i

SUBMITTER: Lawless D 

PROVIDER: S-EPMC12926777 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature