NBIS lights a GA4GH Beacon for the first Swedish WGS reference population dataset

SciLifeLab has released the first map of genetic variation in Sweden. The results are based on whole genome DNA sequencing of 1 000 individuals, selected to cover the variation in the whole country, and describes the aggregated whole-genome variant frequencies for this cohort.

NBIS has implemented access to the information in this reference dataset in the form of a GA4GH Beacon. A Beacon is defined as a simple public web service designed merely to accept a query of the form “Do you have any genomes with an ‘A’ at position 100,735 on chromosome 3” (or similar data) and responds with one of “Yes” or “No.”

The Beacon for the Swedish WGS reference is available through an interactive web form at https://swefreq.nbis.se/#/dataBeacon/ or through the http API at https://swefreq.nbis.se/info.

NBIS, as the Swedish ELIXIR node, has done this effort as part of an ongoing ELIXIR Beacon project.