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)
Get full text
Journal Article
Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases
Reese, Justin T, Chimirri, Leonardo, Danis, Daniel, Caufield, J Harry, Wissink, Kyran, Casiraghi, Elena, Valentini, Giorgio, Haendel, Melissa A, Mungall, Christopher J, Robinson, Peter N
Published in medRxiv : the preprint server for health sciences (22.07.2024)
Published in medRxiv : the preprint server for health sciences (22.07.2024)
Get more information
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)
Get more information
Journal Article