Maria Giulia Carta

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Active since

2024

Affiliations

Maria Giulia Carta is an author at University of Pavia specializing in germline variant classification, phenotypic similarity, and diagnostic variant interpretation.

ORCID

Publications per year

2024–2024

Publications

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

Susanna Zucca, Giovanna Nicora, F. De Paoli et al. · Human Genetics · 2024 · 19 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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

Sarah L. Stenton, Melanie O’Leary, Gabrielle Lemire et al. · Human Genomics · 2024 · 18 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Benchmarking whole exome sequencing in the German network for personalized medicine

Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid et al. · European Journal of Cancer · 2024 · 11 citations · Full text

Medicine, Bioinformatics, Oncology +17

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