Transcript-aware rare genetic variant association analyses of cardiopulmonary traits in participants from the All of Us Research Program.

Abstract excerpt

Gene-based rare variant analyses often lack statistical power and may overlook transcript-specific effects. Here, we present a transcript-aware aggregation framework. In simulation studies, the framework maintains appropriate false-positive rates and shows competitive power relative to standard single-transcript analyses, approaching the performance of the ideal case of knowing the most informative transcript in...

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