Article

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

2026-05-17

Abstract excerpt

<h4>Background</h4> For many evidence criteria within v3.0 of the ACMG/AMP guidelines, methodologies have been developed to empower their use outside the stipulated evidence strengths. However, no such methodology has been established for case-control data (PS4). With the release of large-scale unselected case-control datasets and expansion of nationally-collected laboratory datasets enriched for pathogenic varia...

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Literature Corpus work: 37b75fc9-e515-58ff-aec9-41bf39be90ce
DOI: 10.64898/2026.05.13.26353095

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