A Corpus of GA4GH Phenopackets: Case-Level Phenotyping for Genomic Diagnostics and Discovery
Daniel Danis,Michael J. Bamshad,Yasemin Bridges,Andres Caballero-Oteyza,Pilar Cacheiro,Leigh C. Carmody, Leonardo Chimirri,Jessica X. Chong,Ben Coleman,Raymond Dalgleish,Peter J. Freeman, Adam S. L. Graefe,Tudor Groza,Peter Hansen,Julius O. B. Jacobsen,Adam Klocperk,Maaike Kusters,Markus S. Ladewig, Anthony J. Marcello,Teresa Mattina,Christopher J. Mungall,Monica C. Munoz-Torres,Justin T. Reese, Filip Rehburg, Barbara C. S. Reis,Catharina Schuetz,Damian Smedley,Timmy Strauss,Jagadish Chandrabose Sundaramurthi,Sylvia Thun, Kyran Wissink,John F. Wagstaff,David Zocche,Melissa A. Haendel,Peter N. Robinson HUMAN GENETICS AND GENOMICS ADVANCES（2025）
Key words
human phenotype ontology,global alliance for genomics and health,phenopacket schema
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