#functional-assays — top 20, last 14d
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An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
(nature.com)
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Nature Communications 2026-07-09 | #variants #tuberous-sclerosis #functional-assays #pathogenic-classification | |
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Combining multiplexed functional data to improve variant classification.
(link.springer.com)
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Genome Medicine 2026-07-11 | #variant classification #functional-assays #machine learning #pathogenicity |