Article

Measuring the Meaning of Genomic Results: Harmonization of the Metric for Case-Level Results in the CSER2 Consortium

2026-06-01

Abstract excerpt

Yield of reported results from genetic testing provides a proximal measure of clinical usefulness. While ACMG/AMP guidelines provide representations of uncertainty for individual genetic variant classification, additional factors are considered when determining whether results explain a patient's presentation. To standardize cross-consortium analysis, a working group of the Clinical Sequencing Evidence-Generating...

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Literature Corpus work: 8e7ab0a5-a3a8-5ce3-ac2c-329f7c1a48ed
DOI: 10.64898/2026.05.28.26354388

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