Genomic Variation Types

The specific meaning of variation terms varies between different terminologies, file standards and biomedical domains. Here we address such ambiguities through the documentation of overarching concepts (e.g. "genomic deletions") and the different flavours of their manifestations.

Under Construction

This page is currently under construction and will be updated with the types of variants supported in teh different Beacon flavours.

Currently (February 2025, towards GA4GH Connect 2025) there is rapid development which is reflected in the version specific pages:

For additional background see the previous Beacon Scouts: Genomic Variants Use Cases & Examples.