All of Us Reference Panels
LD reference panels construction
- Select genetic variants that are available in the All of Us (CDRv7, Controlled Tier) array genotype dataset.
- The following variant filtering/removing criteria were applied: (a) located on sex chromosomes; (b) missing value frequency > 0.03; and (c) MAF < 0.01.
- LD blocks were defined according to the LD block definition in PRS-CSx [
Ref] (the start and end base pair position of the blocks of the LD reference panels used in PRS-CSx).
- LD blocks were saved in matrices with the "dgCMatrix" class and in "RDS" file format, together compressed with map files including the variant information.
Sample size
- African American: 62,331
- Hispanic: 59,640
Number of variants
- African American: 993,783
- Hispanic: 875,221
UK Biobank Reference Panels
LD reference panels construction
- Select genetic variants that are available in both 1000 Genomes and the UK Biobank genotyped dataset.
- The following variant filtering/removing criteria were applied: (a) located on sex chromosomes; (b) missing value frequency > 0.02; and (c) MAF < 0.05.
- LD blocks were saved in matrices with the "dgCMatrix" class and in "RDS" file format, together compressed with map files including the variant information.
Sample size
Number of variants
- AFR: 1,234,911
- AMR: 1,183,556