Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank Study
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Autores:
Ravi A. Shah, MB, BChir, MRCP ‡ C. Anwar A. Chahal, MBChB, MRCP, PhD, FACC, FESC, FHRS ‡ Shaheryar Ranjha, MD Ghaith Sharaf Dabbagh, MD Babken Asatryan, MD, PhD Ivan Limongelli, MEng, PhD Mohammed Khanji, MBBCh, PhD, MRCP Fabrizio Ricci, MD, PhD Federica
Publicado en:
Canadian Journal of Cardiology, ISSN 1916-7075
Editor:
Elsevier Inc
DOI:
10.1016/J.CJCA.2023.11.021
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
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Autores:
Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wil
Publicado en:
Human Genomics, ISSN 1479-7364
Editor:
Human Genomics
DOI:
10.1186/S40246-024-00604-W
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
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Autores:
S. Zucca, G. Nicora, F. De Paoli, M. G. Carta, R. Bellazzi, P. Magni, E. Rizzo & I. Limongelli
Publicado en:
Human Genetic, ISSN 0340-6717
Editor:
Springer Verlag
DOI:
10.1007/S00439-023-02638-X
VarChat: the generative AI assistant for the interpretation of human genomic variations
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Autores:
Federica De Paoli, Silvia Berardelli, Ivan Limongelli, Ettore Rizzo, Susanna Zucca
Publicado en:
Bioinformatics, ISSN 1367-4811
Editor:
Oxford University Press
DOI:
10.1093/BIOINFORMATICS/BTAE183
Digenic variant interpretation with hypothesis-driven explainable AI
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Autores:
View ORCID ProfileFederica De Paoli, View ORCID ProfileGiovanna Nicora, View ORCID ProfileSilvia Berardelli, View ORCID ProfileAndrea Gazzo, View ORCID ProfileRiccardo Bellazzi, View ORCID ProfilePaolo Magni, View ORCID ProfileEttore Rizzo, View O
Publicado en:
bioRxiv, ISSN 2692-8205
Editor:
bioRxiv
DOI:
10.1101/2023.10.02.560464
