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TheJacksonLaboratory / PhenopacketLab

An Angular/Springboot web application for the loading, editing, saving of data that follows the Phenopacket Schema
BSD 3-Clause "New" or "Revised" License
7 stars 1 forks source link

FAQs documentation missing #239

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

Documentation needed.. exomiser?

pnrobinson commented 1 year ago

The Phenopacket Schema is an emerging GLobal Alliance for Genomics and Health (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. 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. Specifically, Phenopackets are designed to be both human and machine‐interpretable, enabling computing operations and validation on the basis of defined relationships between diagnoses, lab measurements, and genotypic information. Phenopackets can be used for a growing number of computational tasks, including serving as input for genomic analysis software such as Exomiser.

@belkassaby could we add this to the FAQs ?

ielis commented 1 year ago

... such as Exomiser, LIRICAL, SvAnna?

@pnrobinson how about a little bit of shameless self-promotion?

belkassaby commented 1 year ago

I added Daniel suggestion of links and put some paragraphs so it is more readable. you should be able to see the latest changes on phenopacketlab-dev.jax.org . Once it's been checked, I will deploy to SQA, then to phenopacketlab.jax.org

pnrobinson commented 1 year ago

@ielis I would be the last person to experience a sense of shame about self promotion... @belkassaby -- not sure if the paragraphs about LIRICAL etc were added already?

belkassaby commented 1 year ago

@pnrobinson i meant I split the text description you provided into 3 paragraph for more readibility. and added at the end the links to Exomiser, LIRICAL and Svanna. its already deployed on https://phenopacketlab-dev.jax.org/help . let me know if it looks like you expected or if anything needs to be added/changed.