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Ivan Limongelli

University of Pavia

22

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611

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A Rule-Based Expert System for Automatic Implementation of Somatic Variant Clinical Interpretation Guidelines

2019 AIME | Artificial Intelligence in Medicine in Europe
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Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

2019 Human Mutation
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A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset

2019
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CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases

2018 Human Mutation
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Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective

2018 Frontiers in Digital Humanities
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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

2018 Clinical Genetics
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MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

2017 European Journal of Human Genetics
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Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation

2016 Journal of Clinical Oncology
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A Data Fusion Approach to Enhance Association Study in Epilepsy

2016 PLOS ONE
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PaPI: pseudo amino acid composition to score human protein-coding variants

2015 BMC Bioinformatics
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Citations (27)