OLIVIER LICHTARGE to Genetic Variation
This is a "connection" page, showing publications OLIVIER LICHTARGE 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: 0.416
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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: 0.296
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Genome interpretation using in silico predictors of variant impact. Hum Genet. 2022 Oct; 141(10):1549-1577.
Score: 0.126
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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: 0.105
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Type 2 diabetes-associated variants of the MT2 melatonin receptor affect distinct modes of signaling. Sci Signal. 2018 08 28; 11(545).
Score: 0.097
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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: 0.089
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Intramolecular allosteric communication in dopamine D2 receptor revealed by evolutionary amino acid covariation. Proc Natl Acad Sci U S A. 2016 Mar 29; 113(13):3539-44.
Score: 0.082
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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: 0.036
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Accurate and scalable identification of functional sites by evolutionary tracing. J Struct Funct Genomics. 2003; 4(2-3):159-66.
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: 0.026