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regenie_gene

Overview

Field Value
Format key regenie_gene
Spec file formats/regenie_gene.json
Cite name REGENIE
Version 20230926
Last checked 20230926
Source https://rgcgithub.github.io/regenie/
Source (2) https://github.com/rgcgithub/regenie/blob/master/example/test_bin_out_firth_Y1.regenie
GitHub https://github.com/rgcgithub/regenie
Citation Mbatchou, J., Barnard, L., Backman, J., Marcketta, A., Kosmicki, J. A., Ziyatdinov, A., ... & Marchini, J. (2021). Computationally efficient whole-genome regression for quantitative and binary traits. Nature genetics, 53(7), 1097-1103.
## File layout
Field Value
Separator SPACE
NA value NA
Comment prefix #
Column order CHROM, GENPOS, ID, ALLELE0, ALLELE1, A1FREQ, N, TEST, BETA, SE, CHISQ, LOG10P
## Column mapping
Raw header Canonical
A1FREQ EAF
ALLELE0 NEA
ALLELE1 EA
BETA BETA
CHISQ CHISQ
CHROM CHR
EXTRA DOF
GENPOS POS
ID SNPID
LOG10P MLOG10P
N N
SE SE
TEST TEST
## Coverage

8/9 tier groups satisfied.

Tier Status Matched Missing
Variant ID yes SNPID rsID
Genomic location yes CHR, POS
Effect / other allele yes EA, NEA
Effect size yes BETA OR, HR, Z
Uncertainty yes SE
P-value yes MLOG10P P
Sample size yes N N_CASE
Allele frequency yes EAF MAF, NEAF
Imputation / QC no INFO
## See also