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Article

FUSE: Improving the estimation and imputation of variant impacts in functional screening.

Cell genomics - 9 Oct 2024

Yu Tian, Fife James D, Bhat Vineel, Adzhubey Ivan, Sherwood Richard, Cassa Christopher A

Abstract excerpt

Deep mutational scanning enables high-throughput functional assessment of genetic variants. While phenotypic measurements from screening assays generally align with clinical outcomes, experimental noise may affect the accuracy of individual variant estimates. We developed the FUSE (functional substitution estimation) pipeline, which leverages measurements collectively within screening assays to improve the...

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Share to Receptors, LDL
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39389016
DOI: 10.1016/j.xgen.2024.100667
PMCID: PMC11602636

Genes

BRCA1
LDLR
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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