When a researcher downloads a genomic dataset, they typically get CRAM or VCF documents, which are the results of a sequencing experiment. However, these files contain little information on the nature of the experiment itself: are the data from whole genome sequencing, transcriptomics, or another kind of experiment? Are the data for a bulk sequencing or single cell assay? Have techniques been applied to target specific regions of the genome?

Without metadata explaining the context, researchers cannot make sense of results from experiments in genomics, epigenomics, and more. The GA4GH Discovery Work Stream is aiming to produce a minimal checklist of metadata needed to characterise -omics datasets. The Experiments Metadata Standard will provide a dictionary of properties that makes it easier to search for experiments and to understand their results for analysis.

To learn more about the project, including areas of focus, plans for the first phase, and topics that are out of scope, visit here.

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Benefits

• Improves understanding of available data
• Improves the discovery of genomic experiments
• Provides guidelines to help new initiatives better capture their experiments’ metadata
• Provides a dictionary of experiment properties to be supported by other GA4GH standards
• Obtains details on potential experimental biases that may characterise a dataset

Target users

Researchers, clinicians, clinical laboratories, data generators, data custodians, data access committees, developers, and research institutes