@article{6ec49d421d94400c8c868f1a6656fdef,
title = "Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative",
abstract = "The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health.",
keywords = "data sharing, phenotyping, patient information, data protection, rare disease, Faces, DE-NOVO MUTATIONS, FACIAL DYSMORPHOLOGY, MATCHMAKER EXCHANGE, RARE, PHENOTYPE, RECOGNITION, INDIVIDUALS, GENOTYPE, THERAPY, GENOMES",
author = "Christoffer Nellaker and Alkuraya, {Fowzan S.} and Gareth Baynam and Bernier, {Raphael A.} and Bernier, {Francois P. J.} and Vanessa Boulangerw and Michael Brudno and Brunner, {Han G.} and Jill Clayton-Smith and Benjamin Cogne and Dawkins, {Hugh J. S.} and deVries, {Bert B. A.} and Sofia Douzgou and Tracy Dudding-Byth and Eichler, {Evan E.} and Michael Ferlaino and Karen Fieggen and Helen Firth and FitzPatrick, {David R.} and Dylan Gration and Tudor Groza and Melissa Haende and Nina Hallowel and Ada Hamosh and Jayne Hehir-Kwa and Marc-Phillip Hitz and Mark Hughes and Usha Kini and Tjitske Kleefstra and Kooy, {R. Frank} and Peter Krawitz and Sebastien Kury and Melissa Lees and Lyon, {Gholson J.} and Stanislas Lyonnet and Marcadier, {Julien L.} and Stephen Meyn and Veronika Moslerova and Politei, {Juan M.} and Poulton, {Cathryn C.} and Raymond, {F. Lucy} and Reijnders, {Margot R. F.} and Robinson, {Peter N.} and Corrado Romano and Rose, {Catherine M.} and Sainsbury, {David C. G.} and Lyn Schofield and Sutton, {Vernon R.} and Marek Tumovec and {Van Dijck}, Anke and {Van Esch}, Hilde and Wilkie, {Andrew O.M.} and {Minerva Consortium}",
note = "Funding Information: This work was supported by MRC Fellowship MR/M014568/1 to CN and MRC Grant MR/M01326X/1 for MF. RFK and AVD are supported by grants from the ERA-NET NEURON through the Research Foundation – Flanders (FWO). EEE is supported by NIH 5R01MH101221 and as an investigator of Howard Hughes Medical Institute. CR acknowledges funding by the Italian Ministry of Health, Project RC2019 No. 2751604. Funding Information: We would like to thank the patients and families who have participated on Minerva&Me and with all Minerva Initiative-associated studies. This work was supported by MRC Fellowship MR/M014568/1 to CN, MRC Grant MR/M01326X/1 for MF, and VRS supported by NIH 5UM1HG006542.",
year = "2019",
month = jul,
day = "29",
doi = "10.3389/fgene.2019.00611",
language = "English",
volume = "10",
journal = "Frontiers in Genetics",
issn = "1664-8021",
publisher = "Frontiers Media SA",
number = "JUN",
}