Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Fix typo #92

Merged
merged 1 commit into from
Oct 2, 2023
+1 −1
Merged

Fix typo #92

Changes from all commits
Commits
Show all changes
1 commit
Select commit
File filter

Filter by extension

Filter by extension
Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
2 changes: 1 addition & 1 deletion ig/input/pagecontent/index.md
View file
Open in desktop
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
# GA4GH Phenopackets

The [Global Alliance for Genomics and Health](https://www.ga4gh.org/) (GA4GH) Phenopacket standard intendds to support global exchange of computable case-level phenotypic information for all types of disease diagnosis and research. The Phenopacket standard is a freely available, community-driven standard that streamlines exchange and systematic use of phenotypic data, which will enable sophisticated computational analysis of both clinical and genomic information to help improve our understanding of diseases and our ability to manage them.
The [Global Alliance for Genomics and Health](https://www.ga4gh.org/) (GA4GH) Phenopacket standard intends to support global exchange of computable case-level phenotypic information for all types of disease diagnosis and research. The Phenopacket standard is a freely available, community-driven standard that streamlines exchange and systematic use of phenotypic data, which will enable sophisticated computational analysis of both clinical and genomic information to help improve our understanding of diseases and our ability to manage them.

A Phenopacket represents an individual proband or patient and includes information about the individual such as age (which can be represented in multiple ways including ranges to protect privacy) and sex, any existing disease diagnoses. Almost all elements of a Phenopacket are optional. A simple Phenopacket containing only information about the proband and a list of phenotypic features is all that is required for use cases of Mendelian genomic disease diagnostics. More comprehensive Phenopackets containing additional data about biosamples and treatment may be appropriate for use cases surrounding rare disease, common/complex disease, or cancer.

Expand Down