Associated Papers
Advancing regulatory variant effect prediction with AlphaGenome.
Avsec Ž et al.
Nature, 2026
41606153 (PubMed )
Supplement: 41586_2025_10014_MOESM4_ESM.pdf
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
40000157 (PubMed )
Supplement: CGE-108-318-s003.docx
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Dionnet E et al.
Human Mutation, 2020
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