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GA4GH Phenopackets: A Practical Introduction
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 phenotypi...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000265/ https://www.ncbi.nlm.nih.gov/pubmed/36910590 http://dx.doi.org/10.1002/ggn2.202200016 |
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author | Ladewig, Markus S. Jacobsen, Julius O. B. Wagner, Alex H. Danis, Daniel El Kassaby, Baha Gargano, Michael Groza, Tudor Baudis, Michael Steinhaus, Robin Seelow, Dominik Bechrakis, Nikolaos E. Mungall, Christopher J. Schofield, Paul N. Elemento, Olivier Smith, Lindsay McMurry, Julie A. Munoz‐Torres, Monica Haendel, Melissa A. Robinson, Peter N. |
author_facet | Ladewig, Markus S. Jacobsen, Julius O. B. Wagner, Alex H. Danis, Daniel El Kassaby, Baha Gargano, Michael Groza, Tudor Baudis, Michael Steinhaus, Robin Seelow, Dominik Bechrakis, Nikolaos E. Mungall, Christopher J. Schofield, Paul N. Elemento, Olivier Smith, Lindsay McMurry, Julie A. Munoz‐Torres, Monica Haendel, Melissa A. Robinson, Peter N. |
author_sort | Ladewig, Markus S. |
collection | PubMed |
description | 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 clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases. |
format | Online Article Text |
id | pubmed-10000265 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-100002652023-03-11 GA4GH Phenopackets: A Practical Introduction Ladewig, Markus S. Jacobsen, Julius O. B. Wagner, Alex H. Danis, Daniel El Kassaby, Baha Gargano, Michael Groza, Tudor Baudis, Michael Steinhaus, Robin Seelow, Dominik Bechrakis, Nikolaos E. Mungall, Christopher J. Schofield, Paul N. Elemento, Olivier Smith, Lindsay McMurry, Julie A. Munoz‐Torres, Monica Haendel, Melissa A. Robinson, Peter N. Adv Genet (Hoboken) Research Articles 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 clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases. John Wiley and Sons Inc. 2022-08-25 /pmc/articles/PMC10000265/ /pubmed/36910590 http://dx.doi.org/10.1002/ggn2.202200016 Text en © 2022 The Authors. Advanced Genetics published by Wiley Periodicals LLC https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Articles Ladewig, Markus S. Jacobsen, Julius O. B. Wagner, Alex H. Danis, Daniel El Kassaby, Baha Gargano, Michael Groza, Tudor Baudis, Michael Steinhaus, Robin Seelow, Dominik Bechrakis, Nikolaos E. Mungall, Christopher J. Schofield, Paul N. Elemento, Olivier Smith, Lindsay McMurry, Julie A. Munoz‐Torres, Monica Haendel, Melissa A. Robinson, Peter N. GA4GH Phenopackets: A Practical Introduction |
title | GA4GH Phenopackets: A Practical Introduction |
title_full | GA4GH Phenopackets: A Practical Introduction |
title_fullStr | GA4GH Phenopackets: A Practical Introduction |
title_full_unstemmed | GA4GH Phenopackets: A Practical Introduction |
title_short | GA4GH Phenopackets: A Practical Introduction |
title_sort | ga4gh phenopackets: a practical introduction |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000265/ https://www.ncbi.nlm.nih.gov/pubmed/36910590 http://dx.doi.org/10.1002/ggn2.202200016 |
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