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Ivan Limongelli

Showing results (1-10 of 24) with videos related to

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BMC Bioinformatics|May 1, 2015
PaPI: pseudo amino acid composition to score human protein-coding variantsIvan Limongelli, Simone Marini, Riccardo Bellazzi
Scientific Reports|February 16, 2022
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritizationGiovanna Nicora, Susanna Zucca, Ivan Limongelli, et al.
Journal of Biomedical Informatics|October 15, 2014
A kinetic model-based algorithm to classify NGS short reads by their allele originAndrea Marinoni, Ettore Rizzo, Ivan Limongelli, et al.
Bioinformatics (Oxford, England)|April 5, 2024
VarChat: the generative AI assistant for the interpretation of human genomic variationsFederica De Paoli, Silvia Berardelli, Ivan Limongelli, et al.
BMC Bioinformatics|December 31, 2015
BigQ: a NoSQL based framework to handle genomic variants in i2b2Matteo Gabetta, Ivan Limongelli, Ettore Rizzo, et al.
Plos One|December 17, 2016
A Data Fusion Approach to Enhance Association Study in EpilepsySimone Marini, Ivan Limongelli, Ettore Rizzo, et al.
Human Mutation|October 10, 2018
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseasesGiovanna Nicora, Ivan Limongelli, Patrick Gambelli, et al.
NAR Genomics and Bioinformatics|March 31, 2025
Digenic variant interpretation with hypothesis-driven explainable AIFederica De Paoli, Giovanna Nicora, Silvia Berardelli, et al.
Genes|July 27, 2022
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A GeneIbrahim Taha, Federica De Paoli, Selena Foroni, et al.
Biomedicines|August 28, 2025
A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing TechnologiesGiuseppe Giovanni Nardone, Valentina Andrioletti, Aurora Santin, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
BMC Bioinformatics|May 1, 2015
PaPI: pseudo amino acid composition to score human protein-coding variantsIvan Limongelli, Simone Marini, Riccardo Bellazzi
Scientific Reports|February 16, 2022
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritizationGiovanna Nicora, Susanna Zucca, Ivan Limongelli, et al.
Journal of Biomedical Informatics|October 15, 2014
A kinetic model-based algorithm to classify NGS short reads by their allele originAndrea Marinoni, Ettore Rizzo, Ivan Limongelli, et al.
Bioinformatics (Oxford, England)|April 5, 2024
VarChat: the generative AI assistant for the interpretation of human genomic variationsFederica De Paoli, Silvia Berardelli, Ivan Limongelli, et al.
BMC Bioinformatics|December 31, 2015
BigQ: a NoSQL based framework to handle genomic variants in i2b2Matteo Gabetta, Ivan Limongelli, Ettore Rizzo, et al.
Plos One|December 17, 2016
A Data Fusion Approach to Enhance Association Study in EpilepsySimone Marini, Ivan Limongelli, Ettore Rizzo, et al.
Human Mutation|October 10, 2018
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseasesGiovanna Nicora, Ivan Limongelli, Patrick Gambelli, et al.
NAR Genomics and Bioinformatics|March 31, 2025
Digenic variant interpretation with hypothesis-driven explainable AIFederica De Paoli, Giovanna Nicora, Silvia Berardelli, et al.
Genes|July 27, 2022
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A GeneIbrahim Taha, Federica De Paoli, Selena Foroni, et al.
Biomedicines|August 28, 2025
A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing TechnologiesGiuseppe Giovanni Nardone, Valentina Andrioletti, Aurora Santin, et al.
Pageof 3