PANAGIOTIS KATSONIS to Genetic Variation
This is a "connection" page, showing publications PANAGIOTIS KATSONIS has written about Genetic Variation.
Connection Strength
1.306
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CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation. Hum Mutat. 2019 09; 40(9):1436-1454.
Score: 0.381
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A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness. Genome Res. 2014 Dec; 24(12):2050-8.
Score: 0.271
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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. Hum Genet. 2025 Mar; 144(2-3):295-308.
Score: 0.140
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Predicting the impact of rare variants on RNA splicing in CAGI6. Hum Genet. 2025 Mar; 144(2-3):243-251.
Score: 0.129
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Genome interpretation using in silico predictors of variant impact. Hum Genet. 2022 Oct; 141(10):1549-1577.
Score: 0.115
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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 09; 40(9):1373-1391.
Score: 0.096
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Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Hum Mutat. 2017 09; 38(9):1042-1050.
Score: 0.082
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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs). Hum Genet. 2025 Mar; 144(2-3):227-242.
Score: 0.035
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Hum Genomics. 2024 04 29; 18(1):44.
Score: 0.033
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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Hum Mutat. 2019 09; 40(9):1546-1556.
Score: 0.024