A novel bioinformatics SaaS platform to identify and classify the pathogenicity of single genomic variants and oligogenic variant combinations for the diagnosis and treatment of genetic diseases

Project Information

eVai

Grant agreement ID: 190164416

DOI

10.3030/190164416

Project closed

EC signature date 28 April 2022

Start date 1 April 2022

End date 31 March 2024

Funded under

• The European Innovation Council (EIC)

Total cost

€ 2 403 625,01

EU contribution

€ 1 682 537,51

Coordinated by

ENGENOME SRL
Italy

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Websites, patent fillings, videos etc. (1)

D5.2 Report on communication activities

Publications

Peer reviewed articles (5)

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

Author(s): 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
Published in: Canadian Journal of Cardiology, ISSN 1916-7075
Publisher: 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

Author(s): 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
Published in: Human Genomics, ISSN 1479-7364
Publisher: 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

Author(s): S. Zucca, G. Nicora, F. De Paoli, M. G. Carta, R. Bellazzi, P. Magni, E. Rizzo & I. Limongelli
Published in: Human Genetic, ISSN 0340-6717
Publisher: Springer Verlag
DOI: 10.1007/S00439-023-02638-X

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

Author(s): Federica De Paoli, Silvia Berardelli, Ivan Limongelli, Ettore Rizzo, Susanna Zucca
Published in: Bioinformatics, ISSN 1367-4811
Publisher: Oxford University Press
DOI: 10.1093/BIOINFORMATICS/BTAE183

Digenic variant interpretation with hypothesis-driven explainable AI

Author(s): 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
Published in: bioRxiv, ISSN 2692-8205
Publisher: bioRxiv
DOI: 10.1101/2023.10.02.560464

Intellectual Property Rights

Patent (2)

PREDICTIVE METHOD FOR DETERMINING THE PATHOGENICITY OF COMBINATIONS OF DIGENIC OR OLIGOGENIC VARIANTS

Application/Publication number: 20 22052386
Date: 2022-03-16
Applicant(s): ENGENOME SRL

A METHOD FOR DETERMINING THE PATHOGENICITY/BENIGNITY OF A GENOMIC VARIANT IN CONNECTION WITH A GIVEN DISEASE

Application/Publication number: 20 21056870
Date: 2021-07-28
Applicant(s): ENGENOME SRL