Name
Querying Phenopackets with Beacon v2.0: a prototype implementation in the prenatal space
Date & Time
Friday, April 4, 2025, 9:00 AM - 10:30 AM
Description

Congenital anomalies affect 2-4% of all infants and are responsible for 20% of perinatal deaths or admissions to children's hospitals. Genomic diagnostics is playing an ever more important role in the care of affected fetuses, infants, and families. One major roadblock to progress in this area is represented by the difficulties in extracting detailed and evolving data from prenatal sonography and other medical encounters and in representing the data in a computable form that allows data exchange and sophisticated analysis. We have set up a data pipeline that transforms an existing database into the GA4GH Phenopackets format and links this clinical data to genome sequence data through the Terra Platform at the Broad Institute. We have piloted software to enable querying of the data source via the Beacon v2.0 API. In this workshop, we will review the current status and discuss current challenges, including better integration of EHR and prenatal sonography data, better integration of the Beacon API, and plans to expand and mature the current resource including longitudinal follow-up throughout the lifespan.

Location Name
Olympus
Full Address
Broad Institute of MIT and Harvard
Merkin Building
Cambridge, MA 02142
United States
Virtual session link
Agenda
Recording link