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Rita Casadio

biocomputing group
H指数:66
被引数:2.2万

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Merging metabolomics and genomics provides a catalog of genetic factors that influence molecular phenotypes in pigs linking relevant metabolic pathways
2025-03-060
OAAI
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
2025-03-010
OA
Critical assessment of missense variant effect predictors on disease-relevant variant data
2025-03-011
OAAI
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
2025-02-200
PRE
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
2025-02-120
OAAI
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
2025-01-091
OAAI
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
2024-12-230
PRE
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
2024-08-070
PRE
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
2024-04-293
OAAI
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

CAGI,基因组解释的关键评估,建立了计算遗传变异解释方法的进展和前景

2024-02-2210
OAAI
Discriminating physiological from non-physiological interfaces in structures of protein complexes: A community-wide study

区分蛋白质复合物结构中的生理与非生理界面: 一项社区范围的研究

2023-06-277
OA
Resources and tools for rare disease variant interpretation
2023-05-107
OAAI