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Article

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

American journal of human genetics - 5 Jun 2025

Park Min Seon, Kumar Runjun D, Ovadiuc Cristian, Folta Andrew, McEwen Abbye E, Snyder Ashley, Villani Rehan M, Spurdle Amanda B, Fowler Douglas M, Rubin Alan F, Shirts Brian H, Starita Lea M, Stergachis Andrew B

Abstract excerpt

Variant-level functional data are a core component of clinical variant classification and can aid in reinterpreting variants of uncertain significance (VUSs). However, the usage of functional data by genetics professionals is currently unknown. An online survey was developed and distributed in the spring of 2024 to individuals actively engaged in variant interpretation. Quantitative and qualitative methods were...

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Genetic Testing
Genetic Variation
Surveys and Questionnaires

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40480199
DOI: 10.1016/j.ajhg.2025.04.009
PMCID: PMC12256793

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