Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening

Authors: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zschüntzsch, Richard Röttger, Rumen Stefanov

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)

Subject Terms: Databases, Health data, Electronic health records, ERNs, Rare diseases, Machine learning (ML), Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/9f9c2028614d49d3b07149f48c552102

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

Authors: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-19 (2024)

Subject Terms: Rare diseases, Machine learning, Artificial intelligence, European reference networks, Diagnosis, Diagnostic delay, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/60151e265a674dd4adbee2045f553e37

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

Authors: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov

Source: Frontiers in Public Health, Vol 11 (2023)

Subject Terms: rare disease registry, European Reference Networks (ERNs), electronic health records, issues, limitations, machine learning, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1214766/full; https://doaj.org/toc/2296-2565

Access URL: https://doaj.org/article/98c77b905f46488e879f1ab8ef51ab77

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Authors: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini

Source: PLoS ONE, Vol 18, Iss 11 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/457a1e2e14b949feb19751ce2bb255fc

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Authors: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini

Source: PLoS ONE, Vol 18, Iss 11, p e0293503 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b1398ce8c27f41afbbe124544bb3d5b6