Ivan Limongelli

Pavia, Italy

Last Updated: 09/26/2026

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Found 26 publications

Artificial Intelligence and Machine Learning Approaches for Cardiovascular Genomics: A State-of-the-Art Review.

Artificial Intelligence and Machine Learning Approaches for Cardiovascular Genomics: A State-of-the-Art Review.

Journal: Circulation. Genomic and precision medicine

Published: August 18, 2026

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies.

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies.

Journal: Biomedicines

Published: July 11, 2025

Digenic variant interpretation with hypothesis-driven explainable AI.

Digenic variant interpretation with hypothesis-driven explainable AI.

Journal: NAR genomics and bioinformatics

Published: October 28, 2024

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Journal: Gene

Published: July 31, 2024

VarChat: the generative AI assistant for the interpretation of human genomic variations.

VarChat: the generative AI assistant for the interpretation of human genomic variations.

Journal: Bioinformatics (Oxford, England)

Published: November 16, 2023

Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank Study.

Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank Study.

Journal: The Canadian journal of cardiology

Published: August 28, 2023

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Journal: medRxiv : the preprint server for health sciences

Published: August 14, 2023

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Journal: Human genomics

Published: August 11, 2023

An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.

An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.

Journal: Human genetics

Published: July 28, 2023

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 Gene.

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 Gene.

Journal: Genes

Published: June 17, 2022

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

Journal: Scientific reports

Published: March 03, 2021

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.

Journal: Human mutation

Published: February 18, 2019

Showing 1-12 of 26

Last Updated: 09/26/2026