Associated Papers
The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.
Liu M et al.
The Oncologist, 2023
37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations
DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features.
Luppino F et al.
Nature Communications, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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