Genomics England Research EnvironmentΒΆ
ANNOUNCEMENTS
Current data release:
- 100kGP: /main-programme/main-programme_v19_2024-10-31
- NHS GMS: nhs-gms/nhs-gms-release_v5_2025-08-28
11th September 2025 - Additional RNA-Seq data
We have added RNA-Seq data for an additional 2283 rare disease participants from 100kGP, bringing our total RNA-Seq samples to 7840 from 7829 participants. The rnaseq_qc_metrics and transcriptome_file_paths_and_types tables have been updated to include these new data.
28th August - GMS release 5
We have released the latest version of GMS data, release 5.
9th July 2025 - Workflow update
Small Variant v3.1.4 updates default data release to main-programme/main-programme_v19_2024-10-31, updates bcftools to 1.22, bcftools 1.22 resolves issue regarding haploid-diploid merge fail (see bcftools issue)
13th March 2025 - COVID data release 7
We have released the latest version of our COVID-19 data in CloudOS, release 7.
5th February 2025 - Workflow update
Small Variant v3.1.3 includes a bugfix to allow open reading frame genes, updates VEP to 112, removes deprecated VEP annotation --af_esp, adds VEP genomic allele frequency annotation --af_gnomadg
4th February 2025 - Script update
VEP 112 is now available in an updated, easy-to-use script.
20th December - Secondary clinical data for NHS GMS
We now have medical record data for NHS GMS participants.
18th November - change to HPC address
The HPC address has changed to doublehelix.helix.prod.aws.gel.ac.
31st October - 100kGP release 19
We have released the latest version of 100kGP data, release 19. 18th October 2024 - Workflow update
22nd August - GMS release 4
We have released the latest version of GMS data, release 4.