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Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation
2025-01-27
genetic and genomic medicine
Title + abstract only
View on medRxiv
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IntroductionVariant-level functional data is a core component of clinical variant classification and can aid in reinterpreting variants of uncertain significance (VUS). However, the usage of functional data by genetics professionals is currently unknown. MethodsAn online survey was developed and distributed in spring of 2024 to individuals actively engaged in variant interpretation. Quantitative and qualitative methods were used to assess responses. Results190 eligible individuals responded, w...
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