Publication: GA4GH Phenopackets: A Practical Introduction
GA4GH Phenopackets: A Practical Introduction
Date
Date
Date
Citations
Ladewig, M. S., Jacobsen, J. O. B., Wagner, A. H., Danis, D., El Kassaby, B., Gargano, M., Groza, T., Baudis, M., Steinhaus, R., Seelow, D., Bechrakis, N. E., Mungall, C. J., Schofield, P. N., Elemento, O., Smith, L., McMurry, J. A., MunozāTorres, M., Haendel, M. A., & Robinson, P. N. (2023). GA4GH Phenopackets: A Practical Introduction. Advanced Genetics, 4(1), 2200016. https://doi.org/10.1002/ggn2.202200016
Abstract
Abstract
Abstract
The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. A detailed example is presented that illustrates how to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the
Metrics
Downloads
Views
Citations
Additional indexing
Creators (Authors)
Volume
Volume
Volume
Number
Number
Number
Page Range
Page Range
Page Range
Item Type
Item Type
Item Type
In collections
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Citations
Ladewig, M. S., Jacobsen, J. O. B., Wagner, A. H., Danis, D., El Kassaby, B., Gargano, M., Groza, T., Baudis, M., Steinhaus, R., Seelow, D., Bechrakis, N. E., Mungall, C. J., Schofield, P. N., Elemento, O., Smith, L., McMurry, J. A., MunozāTorres, M., Haendel, M. A., & Robinson, P. N. (2023). GA4GH Phenopackets: A Practical Introduction. Advanced Genetics, 4(1), 2200016. https://doi.org/10.1002/ggn2.202200016
