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Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, United States.
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xref:PubMed:41527523
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The performance of AlphaMissense to identify genes influencing disease.
Not available
S-EPMC11409027
|
biostudies-literature
Cite
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Not available
S-EPMC11666499
|
biostudies-literature
Cite
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.
Not available
S-EPMC11925568
|
biostudies-literature
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Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.
Not available
S-EPMC11576984
|
biostudies-literature
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AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.
Not available
S-EPMC10634779
|
biostudies-literature
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Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases.
Not available
S-EPMC12765323
|
biostudies-literature
Cite
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.
Not available
S-EPMC11592069
|
biostudies-literature
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Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants.
Not available
S-EPMC12120181
|
biostudies-literature
Cite
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.
Not available
S-EPMC11673193
|
biostudies-literature
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Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
Not available
S-EPMC10592606
|
biostudies-literature
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