Article

Joint estimation and imputation of variant functional effects using high throughput assay data

2023-01-07

Abstract excerpt

<h4>Summary</h4> Deep mutational scanning assays enable the functional assessment of variants in high throughput. Phenotypic measurements from these assays are broadly concordant with clinical outcomes but are prone to noise at the individual variant level. We develop a framework to exploit related measurements within and across experimental assays to jointly estimate variant impact. Drawing from a large corpus of...

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Literature Corpus work: 782bb070-a874-5630-a631-a5ef8030b8f0
DOI: 10.1101/2023.01.06.23284280

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