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

ABSTRACT: 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 deep mutational scanning data, we collectively estimate the mean functional effect per AA residue position within each gene, normalize observed functional effects by substitution type, and make estimates for individual allelic variants with a pipeline called FUSE ( Fu nctional S ubstitution E stimation). FUSE improves the correlation of functional screening datasets covering

SUBMITTER: Yu T 

PROVIDER: S-EPMC9882428 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature