A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery
Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Chandrabose Sundaramurthi, Jagadish, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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How Interoperability Can Enable Artificial Intelligence in Clinical Applications
Rehburg, Filip, Graefe, Adam, Hübner, Miriam, Thun, Sylvia
Published in Studies in health technology and informatics (22.08.2024)
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Published in Studies in health technology and informatics (22.08.2024)
Journal Article
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Danis, Daniel, Bamshad, Michael J, Bridges, Yasemin, Cacheiro, Pilar, Carmody, Leigh C, Chong, Jessica X, Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J, Graefe, Adam S L, Groza, Tudor, Jacobsen, Julius O B, Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S, Marcello, Anthony J, Mattina, Teresa, Mungall, Christopher J, Munoz-Torres, Monica C, Reese, Justin T, Rehburg, Filip, Reis, Bárbara C S, Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F, Zocche, David, Haendel, Melissa A, Robinson, Peter N
Published in medRxiv : the preprint server for health sciences (29.05.2024)
Published in medRxiv : the preprint server for health sciences (29.05.2024)
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Journal Article