Want to help shape guidelines for pandemic prep, schema consensus, sequencing metadata, and categorical variants? Join four new GA4GH groups!

How do you figure out if your CRAM file came from a single cell assay or bulk sequencing experiment?

Have you noticed that key evidence linking genes and disease is often attached to broad categories of variants, which are hard to find and compare?

In the next pandemic, how do we make it easier for human-pathogen genomics researchers to speed up their work while maintaining the same level of ethical conduct?

And why doesn’t every GA4GH Work Stream represent data using a shared language? 

Explore answers to these questions in one of four new GA4GH groups:

• Experiments Metadata Standard, drafting a checklist for capturing crucial information about genomics experiments to make finding and comparing data easier, and to reduce potential biases during data analysis;
• Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework, writing a practical guide for use during global disease outbreaks to ensure research is conducted ethically, despite occurring at a faster pace;
• Categorical Variation (CatVar) Study Group exploring how to model the categories of variation that carry key evidence about whether a certain gene variant leads to disease;
• Data Model and Schema Consensus (DaMaSC) Study Group (newly relaunched), exploring how to better align GA4GH Work Streams to avoid making biomedical data silos worse.