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Article

Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2023

Chen Yile, Jain Shantanu, Zeiberg Daniel, Iakoucheva Lilia M, Mooney Sean D, Radivojac Predrag, Pejaver Vikas

Abstract excerpt

The accurate interpretation of genetic variants is essential for clinical actionability. However, a majority of variants remain of uncertain significance. Multiplexed assays of variant effects (MAVEs), can help provide functional evidence for variants of uncertain significance (VUS) at the scale of entire genes. Although the systematic prioritization of genes for such assays has been of great interest from the...

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PMID: 36540988
PMCID: PMC10042589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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