Article

A power-based sliding window approach to evaluate the clinical impact of rare genetic variants

2022-07-31

Abstract excerpt

Systematic determination of rare and novel variant pathogenicity remains a major challenge, even when there is an established association between a gene and phenotype. Here we present Power Window (PW), a novel sliding window technique that identifies the clinically impactful regions of a gene using population-scale clinico-genomic datasets. By sizing windows based on the number of variant carriers, rather than th...

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Literature Corpus work: 82b1d4b7-6963-51d3-97ef-af591eda4571
DOI: 10.1101/2022.07.29.22278171

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