GA4GH Phenopackets: A Practical Introduction. Issue 1 (25th August 2022)
- Record Type:
- Journal Article
- Title:
- GA4GH Phenopackets: A Practical Introduction. Issue 1 (25th August 2022)
- Main Title:
- GA4GH Phenopackets: A Practical Introduction
- Authors:
- 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. - 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 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. Abstract : The Global Alliance for Genomics and Health (GA4GH) is developing a suite of standards to enable genomic and related‐health data sharing. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person or biosample, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. Here, a detailed example is presented.
- Is Part Of:
- Advanced genetics. Volume 4:Issue 1(2023)
- Journal:
- Advanced genetics
- Issue:
- Volume 4:Issue 1(2023)
- Issue Display:
- Volume 4, Issue 1 (2023)
- Year:
- 2023
- Volume:
- 4
- Issue:
- 1
- Issue Sort Value:
- 2023-0004-0001-0000
- Page Start:
- n/a
- Page End:
- n/a
- Publication Date:
- 2022-08-25
- Subjects:
- deep phenotyping -- FAIR data -- Global Alliance for Genomics and Health -- Human Phenotype Ontology -- Phenopacket Schema
Genetics -- Periodicals
Genomics -- Periodicals
Genomics
Genetics
Genetics
Genomics
Electronic journals
Periodicals
576.5 - Journal URLs:
- https://onlinelibrary.wiley.com/toc/26416573/2020/1/1 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/ggn2.202200016 ↗
- Languages:
- English
- ISSNs:
- 2641-6573
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 26387.xml