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• W2897746710 abstract "In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, an appropriate timeline for reevaluating curated gene-disease associations will need to be determined. To provide guidance on how often a gene-disease association should be recurated, a retrospective analysis of 30 gene curations was performed. Curations were simulated at one-year intervals starting with the year of the first publication to assert disease-causing variants in the gene to observe trends in the classification over time, as well as factors that influenced changes in classification. On average, gene-disease associations spent the least amount of time in the Moderate classification before progressing to Strong or Definitive. In contrast, gene-disease associations that spent five or more years in the Limited classification were most likely to remain Limited or become Disputed/Refuted. Large population datasets contributed to the reclassification of several gene-disease associations from Limited to Disputed/Refuted. Finally, recent advancements in sequencing technology correlated with an increase in the quantity of case-level evidence that was curated per paper. This study provided a number of key points to consider when determining how often to recurate a gene-disease association." @default.
• W2897746710 created "2018-10-26" @default.
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• W2897746710 date "2018-10-11" @default.
• W2897746710 modified "2023-10-18" @default.
• W2897746710 title "The progression of the ClinGen gene clinical validity classification over time" @default.
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• W2897746710 doi "https://doi.org/10.1002/humu.23604" @default.
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• W2897746710 hasPublicationYear "2018" @default.
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