Data Discovery in Biomedical Genomics - Time for a New Paradigm
The XIVth MEDICAL GENETICS TÂRGU MUREȘ
SOCIETATEA ROMÂNĂ DE GENETICĂ MEDICALĂ
In biomedical genetics and genomics the last decades have led to the recognition that the vast amaount and diversity of genomic variations requires large-scale approaches to data analysis for both areas of rare disease genetics as well as cancer genomics. While projects establishing high quality data from large cohorts are highly valuable and necessary to drive the field, the true power of genomics can only be leveraged through access to data from different studies and cohorts beyond geographic or regulatory boundaries.
Since its foundation in 2013 the Global Alliance for Genomics and Health (GA4GH) has emerged as the main international organization to address the challenges of data discovery, access and utilization in genomics and related fields. The Beaconi> standard developed by GA4GH with technical support by the European bioinformatics orgabnization ELIXIR and many international stakeholders has become a default for implementing modern concepts of federated data discovery and access.
This presentation will provide an introduction into data federation in biomedical genomics with emphasis on the use of the Beaconm protocol for genomic data discovery, together with a general introduction into principles and mechanisms of genomics standards development by GA4GH.