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Synthetic whole-genome sample (EGAD50000000119, FEGA)
Synthetic single-sample whole-genome dataset (EGAD50000000119), assembly GRCh38, obtained from the Federated EGA network and hosted by ICDG. Fully synthetic, no individual data,... -
1000 Genomes Phase 3 - chromosome 21 (ICDG mirror)
Open-access reference cohort: 2504 individuals from the 1000 Genomes Project Phase 3, chromosome 21 genotypes (GRCh37), mirrored and hosted by ICDG. Consented open data - no... -
Synthetic rare-disease cohort (CBS, homocystinuria) - ICDG use case
SYNTHETIC germline rare-disease use case. Family trios on the 1000G Phase 3 chr21 backbone with a synthetic pathogenic variant modelled on CBS c.833T>C (classic... -
Synthetic cancer cohort (RUNX1, AML) - ICDG use case
SYNTHETIC somatic oncology use case. Tumour/normal pairs on the open 1000G Phase 3 chr21 backbone with synthetic somatic variants modelled on RUNX1 (acute myeloid leukemia)....