Unmodifiable Conditional Analysis Custom Regions Pipeline
Summary
This pipeline is identical in nature to the general one, but it simplifies the generation of the candidate hits. Instead of finemapping the initial sumstats the user can just pass their own regions and hits, speeding up the process and limiting to only regions of interest
Summary of Inputs
conditional_analysis_custom.prefix
: the prefix for the output filesconditional_analysis_custom.cond_regions
: the input file for the conditioning. it should be a tsv withCHROM\tSTART-END\tVARIANT1,VARIANT2
. E.g.14 80620000-81150000 chr14_81006112_T_A 3 187000000-189000000 chr3_187951446_C_A
conditional_analysis_custom.is_binary
:true
orfalse
. It tells regenie what kind of phenotype it isconditional_analysis_custom.pheno
: name of phenotypeconditional_analysis_custom.sumstats
: path to sumstats. it should be structured as"gs://finngen-production-library-green/finngen_R13/finngen_R13_analysis_data/summary_stats/release/PHENO.gz"
so thatPHENO
is replaced with the phenotype defined aboveconditional_analysis_custom.regenie_conditional.null
: path to null fileconditional_analysis_custom.pheno_file
: path to pheno fileconditional_analysis_custom.conditioning_mlogp_threshold
: Mlogp threshold for the conditioned hitconditional_analysis_custom.regenie_conditional.max_steps
: Maximum number of iterations in the conditional analysisconditional_analysis_custom.regenie_conditional.cpus
: cpus to use (it can speed up the process)conditional_analysis_custom.filter_covariates.threshold_cov_count
: minimum number of samples required for each covariates. It's needed to prevent regenie from failingconditional_analysis_custom.covariates
: list of covariates
Outputs
There are two output files.
all_hits
. A file that merges all pheno chains. This file contains all the steps done for each chain. In this case the first hits did not cause a chain as the new top hits in turn did not have significat pvalues. E.g.VARIANTBETASEMLOG10PBETA_condSE_condMLOG10P_condVARIANT_condchr1_17381854_G_A
-0.0371
0.0064
8.2425
nan
nan
nan
nan
chr2_161145756_T_A
-0.0429
0.0073
8.3533
nan
nan
nan
nan
chr2_196338002_G_A
0.059
0.0095
9.2624
nan
nan
nan
nan
chr3_18633152_A_C
0.044
0.0067
10.3279
nan
nan
nan
nan
chr3_16811234_G_A
-0.0367
0.0065
7.7032
-0.0328
0.0066
6.1828
chr3_18633152_A_C
chr3_43656252_G_A
0.0759
0.01
13.5747
nan
nan
nan
nan
chr3_44176307_AAAG_A
0.7812
0.1679
5.4822
0.9816
0.1974
6.1793
chr3_43656252_G_A
chr3_158237129_A_G
0.0388
0.0065
8.6487
nan
nan
nan
nan
chr3_177171295_G_A
0.0843
0.0133
9.588
nan
nan
nan
nan
chr4_59388159_A_G
-0.0403
0.0071
7.8402
nan
nan
nan
nan
chr5_104451467_A_C
0.0383
0.0066
8.1869
nan
nan
nan
nan
chr5_120730291_A_G
-0.0437
0.0066
10.5128
nan
nan
nan
nan
chr5_121149217_A_C
0.6199
0.1257
6.086
0.7808
0.1422
7.3998
chr5_120730291_A_G
chr5_144466903_T_C
0.0374
0.0065
8.1641
nan
nan
nan
nan
chr5_153777668_A_C
-0.0381
0.0065
8.3132
nan
nan
nan
nan
chr5_153129992_T_G
-0.0329
0.0065
6.3568
-0.032
0.0065
6.0592
chr5_153777668_A_C
chr6_51715850_T_C
-0.0567
0.0103
7.4145
nan
nan
nan
nan
chr6_151880872_T_C
-0.0474
0.0065
12.4306
nan
nan
nan
nan
chr6_164751626_G_A
-0.038
0.0063
8.717
nan
nan
nan
nan
chr9_36999372_C_T
0.0348
0.0063
7.419
nan
nan
nan
nan
chr9_95537395_T_A
0.0565
0.0102
7.4833
nan
nan
nan
nan
chr10_21600368_A_AAC
-0.0515
0.0085
8.819
nan
nan
nan
nan
chr10_104842738_C_CT
-0.0411
0.007
8.2919
nan
nan
nan
nan
chr11_28582122_A_G
-0.0389
0.0066
8.3234
nan
nan
nan
nan
chr11_99647795_T_C
0.0431
0.0069
9.5016
nan
nan
nan
nan
chr11_113324873_A_G
-0.038
0.0064
8.5837
nan
nan
nan
nan
chr11_115118275_G_A
-0.0407
0.007
8.312
-0.0398
0.007
7.9104
chr11_113324873_A_G
chr11_113050349_C_T
0.0364
0.0064
7.8798
0.0331
0.0064
6.5628
chr11_113324873_A_G,chr11_115118275_G_A
chr12_60397384_T_A
-0.0372
0.0065
8.0402
nan
nan
nan
nan
chr14_70749996_T_C
-0.227
0.0359
9.5829
nan
nan
nan
nan
chr15_73812581_C_A
-0.0584
0.0105
7.6144
nan
nan
nan
nan
chr16_21667465_T_C
0.0434
0.0073
8.6185
nan
nan
nan
nan
chr16_65751219_A_G
0.0357
0.0064
7.614
nan
nan
nan
nan
chr16_72134342_T_G
0.0485
0.0063
13.8185
nan
nan
nan
nan
chr16_71324662_TCTGCTAATAGGAGTGA_T
0.0829
0.0128
10.054
0.0728
0.0131
7.582
chr16_72134342_T_G
chr18_53199573_T_C
0.0497
0.0063
14.3777
nan
nan
nan
nan
chr18_55212207_T_C
0.0778
0.0148
6.843
0.0759
0.015
6.3537
chr18_53199573_T_C
chr18_76052843_T_C
0.0474
0.0085
7.6577
nan
nan
nan
nan
chr19_49457409_G_T
0.0795
0.0136
8.3038
nan
nan
nan
nan
chrX_93697357_A_G
0.4882
0.0889
7.3997
nan
nan
nan
nan
chrX_93934138_A_G
0.7061
0.1479
5.7454
1.0262
0.1883
7.2998
chrX_93697357_A_G
chr3_18633152_A_C
is the first hit to have a validit conditional chain with the secondary hitchr3_16811234_G_A
, for whichBETA
,SE
andMLOG10P
are provided both for the original (input) sumstats and the conditioned one. In this case, one can see that the values did not change significantly after conditioning, but it can happen that variants go from being non significant to significant or that betas change considerably. Export to Sheetsall_logs
. This file is simply the collection of all regenie outputs and it's meant for debugging in case something went wrong
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