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Archived from the original on June 14, 2020

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This method classifies variants into different groups based on variant annotations (pLOF, all missense, missense (1/5), missense (5/5)) and allele frequency thresholds (1%, 0.05%, 0.01%, 0.001%, and singletons) and applies four main testing strategies: BURDEN (classic burden test across allele frequency bins), SBAT (Set-Based Association Test assuming same effect direction), SKATO (Sequence Kernel Association Test Optimal for mixed effect directions), and ACATV (Aggregated Cauchy Association Test for Variants)

That link had been well established by the scientific literature for more than a decade, but it was obviously significant that you had the government saying it for the first timemaybe this would authorize some meaningful regulation