Matches in SemOpenAlex for { <https://semopenalex.org/work/W4380486912> ?p ?o ?g. }
- W4380486912 abstract "Abstract Measures of selective constraint on genes have been used for many applications including clinical interpretation of rare coding variants, disease gene discovery, and studies of genome evolution. However, widely-used metrics are severely underpowered at detecting constraint for the shortest ∼25% of genes, potentially causing important pathogenic mutations to be overlooked. We developed a framework combining a population genetics model with machine learning on gene features to enable accurate inference of an interpretable constraint metric, s het . Our estimates outperform existing metrics for prioritizing genes important for cell essentiality, human disease, and other phenotypes, especially for short genes. Our new estimates of selective constraint should have wide utility for characterizing genes relevant to human disease. Finally, our inference framework, GeneBayes, provides a flexible platform that can improve estimation of many gene-level properties, such as rare variant burden or gene expression differences." @default.
- W4380486912 created "2023-06-14" @default.
- W4380486912 creator A5004445696 @default.
- W4380486912 creator A5032910777 @default.
- W4380486912 creator A5051388103 @default.
- W4380486912 creator A5086930366 @default.
- W4380486912 date "2023-06-13" @default.
- W4380486912 modified "2023-09-30" @default.
- W4380486912 title "Bayesian estimation of gene constraint from an evolutionary model with gene features" @default.
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