Blog from June, 2017

Updated variation downloads

variation_chr*.full.json.gz GRCh37 files in our http download server have been updated to include gnomAD frequencies:

http://bioinfo.hpc.cam.ac.uk/downloads/cellbase/v4/homo_sapiens_grch37/variation/json/

CellBaseR Bioconductor

An R CellBase client (CellBaseR) is now distributed by Bioconductor

https://bioconductor.org/packages/release/bioc/html/cellbaseR.html

gnomAD exomes and genomes population frequencies (GRCh37) are now provided as part of the variant annotation results:

http://bioinfo.hpc.cam.ac.uk/cellbase/webservices/rest/v4/hsapiens/genomic/variant/19:45411941:T:C/annotation

http://gnomad.broadinstitute.org/