Article

A Scalable Framework for Identifying Allelic Series from Summary Statistics

2024-11-03

Abstract excerpt

Genes for which a dose-response relationship exists between mutational severity and phenotypic impact make for logical therapeutic targets, as the effects of pharmacological modulation can be anticipated from the natural variation present in a population. We refer to genes where such a dose-response relationship exists as harboring allelic series, and have introduced the rare coding-variant allelic series test (CO...

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Literature Corpus work: eaa629f8-06db-5b8f-b27a-591090f9e83e
DOI: 10.1101/2024.10.31.621375

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