pgscatalog
Overview
| Field |
Value |
| Format key |
pgscatalog |
| Spec file |
formats/pgscatalog.json |
| Cite name |
PGS Catalog |
| Version |
20220726 |
| Source |
https://www.pgscatalog.org/downloads/ |
| Citation |
Lambert, S. A., Gil, L., Jupp, S., Ritchie, S. C., Xu, Y., Buniello, A., ... & Inouye, M. (2021). The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation. Nature Genetics, 53(4), 420-425. |
| ## Column mapping |
|
| Raw header |
Canonical |
allelefrequency_effect |
EAF |
chr_name |
CHR |
chr_position |
POS |
effect_allele |
EA |
effect_weight |
BETA |
OR |
OR |
other_allele |
NEA |
rsID |
rsID |
| ## Coverage |
|
5/9 tier groups satisfied.
| Tier |
Status |
Matched |
Missing |
| Variant ID |
yes |
rsID |
SNPID |
| Genomic location |
yes |
CHR, POS |
— |
| Effect / other allele |
yes |
EA, NEA |
— |
| Effect size |
yes |
BETA, OR |
HR, Z |
| Uncertainty |
no |
— |
SE |
| P-value |
no |
— |
P, MLOG10P |
| Sample size |
no |
— |
N, N_CASE |
| Allele frequency |
yes |
EAF |
MAF, NEAF |
| Imputation / QC |
no |
— |
INFO |
| ## See also |
|
|
|