Browsing Centre for Clinical Pharmacology by Author "Wagstaff, JF"

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    • A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. 

      Danis, D; Bamshad, MJ; Bridges, Y; Cacheiro, P; Carmody, LC; Chong, JX; Coleman, B; Dalgleish, R; Freeman, PJ; Graefe, ASL (2024-05-29)
      The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, ...