Summary

Summary {data-width=650}

Manhattan plot

manhattan_plot

QQ plot

qq_plot

AF plot

af_plot

P-Z plot

pz_plot

beta_std plot

beta_std_plot

Metadata

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}
 

LDSC

*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call: 
./ldsc.py \
--h2 /data/cromwell-executions/qc/98a00699-fda1-4c41-a13f-86bd0ceec3e0/call-ldsc/inputs/-261044474/ieu-b-4837.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-4837/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/ 

Beginning analysis at Wed Jan  5 12:39:36 2022
Reading summary statistics from /data/cromwell-executions/qc/98a00699-fda1-4c41-a13f-86bd0ceec3e0/call-ldsc/inputs/-261044474/ieu-b-4837.vcf.gz ...
Read summary statistics for 6719230 SNPs.
Dropped 18738 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1186489 SNPs remain.
After merging with regression SNP LD, 1186489 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1276 (0.0436)
Lambda GC: 1.0368
Mean Chi^2: 1.0396
Intercept: 1.012 (0.0061)
Ratio: 0.3025 (0.1529)
Analysis finished at Wed Jan  5 12:41:12 2022
Total time elapsed: 1.0m:35.56s

QC metrics

Metrics

Metrics

{
    "af_correlation": "NA",
    "inflation_factor": 1.0292,
    "mean_EFFECT": 0,
    "n": 11302,
    "n_snps": 6719302,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 0,
    "n_mac": 0,
    "is_snpid_unique": false,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 6719302,
    "n_miss_AF_reference": 53316,
    "n_est": "NA",
    "ratio_se_n": "NA",
    "mean_diff": "NaN",
    "ratio_diff": "NaN",
    "sd_y_est1": "NaN",
    "sd_y_est2": "NA",
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1186489,
    "ldsc_nsnp_merge_regression_ld": 1186489,
    "ldsc_observed_scale_h2_beta": 0.1276,
    "ldsc_observed_scale_h2_se": 0.0436,
    "ldsc_intercept_beta": 1.012,
    "ldsc_intercept_se": 0.0061,
    "ldsc_lambda_gc": 1.0368,
    "ldsc_mean_chisq": 1.0396,
    "ldsc_ratio": 0.303
}
 

Flags

name value
af_correlation NA
inflation_factor FALSE
n FALSE
is_snpid_non_unique TRUE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq FALSE
n_p_sig FALSE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio FALSE
ldsc_intercept_beta FALSE
n_clumped_hits FALSE
r2_sum1 FALSE
r2_sum2 FALSE
r2_sum3 FALSE
r2_sum4 FALSE

Definitions

General metrics

  • af_correlation: Correlation coefficient between AF and AF_reference.
  • inflation_factor (lambda): Genomic inflation factor.
  • mean_EFFECT: Mean of EFFECT size.
  • n: Maximum value of reported sample size across all SNPs, \(n\).
  • n_clumped_hits: Number of clumped hits.
  • n_snps: Number of SNPs
  • n_p_sig: Number of SNPs with pvalue below 5e-8.
  • n_mono: Number of monomorphic (MAF == 1 or MAF == 0) SNPs.
  • n_ns: Number of SNPs with nonsense values:
    • alleles other than A, C, G or T.
    • P-values < 0 or > 1.
    • negative or infinite standard errors (<= 0 or = Infinity).
    • infinite beta estimates or allele frequencies < 0 or > 1.
  • n_mac: Number of cases where MAC (\(2 \times N \times MAF\)) is less than 6.
  • is_snpid_unique: true if the combination of ID REF ALT is unique and therefore no duplication in snpid.
  • n_miss_<*>: Number of NA observations for <*> column.

se_n metrics

  • n_est: Estimated sample size value, \(\widehat{n}\).
  • ratio_se_n: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.
  • mean_diff: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
    • \(\widehat{\beta_j^{std}} = \sqrt{\frac{{z}_j^2 / ({z}_j^2 + n -2)}{2 \times {MAF}_j \times (1 - {MAF}_j)}} \times sign({z}_j)\),
    • \({z}_j = \frac{\beta_j}{{se}_j}\),
    • and \(\beta_j\) is the reported effect size.
  • ratio_diff: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff and the mean of diff2 (expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
    • \(\texttt{mean_diff2} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta^{\prime}_j}{\texttt{n_snps}}\)
    • \(\beta^{\prime}_j = \frac{\beta_j}{\widehat{\texttt{sd2}}_{y}}\)
  • sd_y_est1: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
    • \(\widehat{\texttt{sd1}}_{y} = \frac{\sqrt{n} \times median({se}_j)}{C}\),
    • \(C = median(\frac{1}{\sqrt{2 \times {MAF}_j \times (1 - {MAF}_j)}})\),
    • and \({se}_j\) is the reported standard error.
  • sd_y_est2: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
    • \(\widehat{\texttt{sd2}}_{y} = median(\widehat{sd_j})\),
    • \(\widehat{sd_j} = \frac{\beta_j}{\widehat{\beta_j^{std}}}\),

r2 metrics

Sum of variance explained, calculated from the clumped top hits sample.

  • r2_sum<*>: r2 statistics under various assumptions
    • 1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).
    • 2: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),
    • 3: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),
    • 4: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).

LDSC metrics

Metrics from LD regression

  • ldsc_nsnp_merge_refpanel_ld: Number of remaining SNPs after merging with reference panel LD.
  • ldsc_nsnp_merge_regression_ld: Number of remaining SNPs after merging with regression SNP LD.
  • ldsc_observed_scale_h2_{beta,se} Coefficient value and SE for total observed scale h2.
  • ldsc_intercept_{beta,se}: Coefficient value and SE for intercept. Intercept is expected to be 1.
  • ldsc_lambda_gc: Lambda GC statistics.
  • ldsc_mean_chisq: Mean \(\chi^2\) statistics.
  • ldsc_ratio: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).

Flags

When a metric needs attention, the flag should return TRUE.

  • af_correlation: abs(af_correlation) < 0.7.
  • inflation_factor: inflation_factor > 1.2.
  • n: n (max reported sample size) < 10000.
  • is_snpid_non_unique: NOT is_snpid_unique.
  • mean_EFFECT_nonfinite: mean(EFFECT) is NA, NaN, or Inf.
  • mean_EFFECT_05: abs(mean(EFFECT)) > 0.5.
  • mean_EFFECT_01: abs(mean(EFFECT)) > 0.1.
  • mean_chisq: ldsc_mean_chisq > 1.3 or ldsc_mean_chisq < 0.7.
  • n_p_sig: n_p_sig > 1000.
  • miss_<*>: n_miss_<*> / n_snps > 0.01.
  • ldsc_ratio: ldsc_ratio > 0.5
  • ldsc_intercept_beta: ldsc_intercept_beta > 1.5
  • n_clumped_hits: n_clumped_hits > 1000
  • r2_sum<*>: r2_sum<*> > 0.5

Plots

  • Manhattan plot
    • Red line: \(-log_{10}^{5 \times 10^{-8}}\)
    • Blue line: \(-log_{10}^{5 \times 10^{-5}}\)
  • QQ plot
  • AF plot
  • P-Z plot
  • beta_std plot: Scatter plot between \(\widehat{\beta_j^{std}}\) and \(\beta_j\)

Diagnostics

Details

Summary stats

skim_type skim_variable n_missing complete_rate character.min character.max character.empty character.n_unique character.whitespace logical.mean logical.count numeric.mean numeric.sd numeric.p0 numeric.p25 numeric.p50 numeric.p75 numeric.p100 numeric.hist
character ID 45 0.9999933 3 58 0 6719206 0 NA NA NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA NA NA
logical AF 6719302 0.0000000 NA NA NA NA NA NaN : NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA NA NA 8.660922e+00 5.761272e+00 1.000e+00 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA NA NA 7.862500e+07 5.646681e+07 8.280e+02 3.212334e+07 6.907324e+07 1.145122e+08 2.492385e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA NA NA 3.290000e-05 2.600020e-02 -2.392e-01 -1.330000e-02 0.000000e+00 1.330000e-02 2.267000e-01 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA NA NA 2.288930e-02 1.166090e-02 1.220e-02 1.400000e-02 1.760000e-02 2.890000e-02 7.460000e-02 ▇▂▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA NA NA 4.951025e-01 2.902457e-01 3.000e-07 2.421001e-01 4.937999e-01 7.468992e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA NA NA 4.951035e-01 2.902491e-01 2.000e-07 2.420769e-01 4.938422e-01 7.468205e-01 1.000000e+00 ▇▇▇▇▇
numeric AF_reference 53316 0.9920652 NA NA NA NA NA NA NA 2.828646e-01 2.508425e-01 1.997e-04 7.727640e-02 2.032750e-01 4.369010e-01 1.000000e+00 ▇▃▂▂▁
numeric N 0 1.0000000 NA NA NA NA NA NA NA 1.026034e+04 1.180642e+03 7.285e+03 9.283000e+03 1.094000e+04 1.130200e+04 1.130200e+04 ▂▁▃▂▇

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 49298 rs200943160 T C -0.0019 0.0156 0.9023001 0.9030615 NA 0.7821490 8201
1 54676 rs2462492 C T -0.0217 0.0164 0.1855000 0.1857786 NA NA 8201
1 86028 rs114608975 T C -0.0011 0.0305 0.9713000 0.9712301 NA 0.0277556 7911
1 91536 rs6702460 G T -0.0309 0.0158 0.0499701 0.0505010 NA 0.4207270 8201
1 234313 rs8179466 C T -0.0053 0.0374 0.8877999 0.8873081 NA NA 7911
1 534192 rs6680723 C T -0.0062 0.0184 0.7375000 0.7361497 NA NA 8201
1 546697 rs12025928 A G 0.0121 0.0285 0.6710996 0.6711564 NA NA 7911
1 693731 rs12238997 A G -0.0461 0.0238 0.0520403 0.0527484 NA 0.1417730 8220
1 705882 rs72631875 G A 0.0096 0.0338 0.7756004 0.7763922 NA 0.0315495 7911
1 706368 rs55727773 A G -0.0070 0.0148 0.6343997 0.6362325 NA 0.2751600 8201
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51218377 rs2519461 G C 0.0080 0.0250 0.7496007 0.7489683 NA 0.0826677 9573
22 51219006 rs28729663 G A -0.0078 0.0191 0.6843007 0.6829969 NA 0.2052720 9568
22 51219387 rs9616832 T C 0.0032 0.0270 0.9049000 0.9056568 NA 0.0654952 8201
22 51219704 rs147475742 G A 0.0160 0.0321 0.6192999 0.6181723 NA 0.0473243 9283
22 51221190 rs369304721 G A 0.0386 0.0291 0.1856000 0.1846872 NA NA 9283
22 51221731 rs115055839 T C 0.0060 0.0270 0.8252999 0.8241409 NA 0.0625000 8201
22 51222100 rs114553188 G T -0.0293 0.0308 0.3423001 0.3414528 NA 0.0880591 9283
22 51223637 rs375798137 G A -0.0296 0.0309 0.3375997 0.3380987 NA 0.0788738 9283
22 51229805 rs9616985 T C 0.0069 0.0271 0.7979001 0.7990224 NA 0.0730831 8201
22 51237063 rs3896457 T C -0.0009 0.0157 0.9568001 0.9542864 NA 0.2050720 8510

bcf preview

1   49298   rs10399793  T   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0019:0.0156:0.044649:8201:rs10399793
1   54676   rs2462492   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0217:0.0164:0.731656:8201:rs2462492
1   86028   rs114608975 T   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0011:0.0305:0.0126466:7911:rs114608975
1   91536   rs1251109649    G   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0309:0.0158:1.30129:8201:rs1251109649
1   234313  rs8179466   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0053:0.0374:0.0516849:7911:rs8179466
1   534192  rs6680723   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0062:0.0184:0.132238:8201:rs6680723
1   546697  rs12025928  A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0121:0.0285:0.173213:7911:rs12025928
1   693731  rs12238997  A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0461:0.0238:1.28366:8220:rs12238997
1   705882  rs72631875  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0096:0.0338:0.110362:7911:rs72631875
1   706368  rs963699400 A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.007:0.0148:0.197637:8201:rs963699400
1   714596  rs149887893 T   C   .   PASS    .   ES:SE:LP:SS:ID  0.0056:0.0433:0.0469172:7911:rs149887893
1   715265  rs12184267  C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0097:0.0418:0.0881502:7911:rs12184267
1   715367  rs12184277  A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0036:0.0416:0.031097:7911:rs12184277
1   717485  rs12184279  C   A   .   PASS    .   ES:SE:LP:SS:ID  0.0043:0.0417:0.0372519:7911:rs12184279
1   720381  rs116801199 G   T   .   PASS    .   ES:SE:LP:SS:ID  0.003:0.0417:0.0252581:7911:rs116801199
1   721290  rs12565286  G   C   .   PASS    .   ES:SE:LP:SS:ID  0.006:0.0414:0.053204:7911:rs12565286
1   722670  rs116030099 T   C   .   PASS    .   ES:SE:LP:SS:ID  0.0143:0.027:0.224972:7911:rs116030099
1   723891  rs2977670   G   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0173:0.0374:0.191451:7911:rs2977670
1   726794  rs28454925  C   G   .   PASS    .   ES:SE:LP:SS:ID  0.0156:0.0417:0.149967:7911:rs28454925
1   729632  rs116720794 C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0167:0.0418:0.161655:7911:rs116720794
1   729679  rs4951859   C   G   .   PASS    .   ES:SE:LP:SS:ID  0.0289:0.0198:0.843148:8510:rs4951859
1   730087  rs148120343 T   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0672:0.0342:1.30364:7911:rs148120343
1   731718  rs58276399  T   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0634:0.0224:2.33753:8540:rs58276399
1   732989  rs369030935 C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0169:0.0525:0.126215:7911:rs369030935
1   734349  rs141242758 T   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0643:0.0226:2.35962:8540:rs141242758
1   736289  rs1254887344    T   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0438:0.0219:1.34037:8510:rs1254887344
1   752478  rs146277091 G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0107:0.0416:0.0985962:7911:rs146277091
1   752566  rs3094315   G   A   .   PASS    .   ES:SE:LP:SS:ID  0.032:0.0187:1.05576:9174:rs3094315
1   752721  rs3131972   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.033:0.0192:1.06905:8830:rs3131972
1   753405  rs3115860   C   A   .   PASS    .   ES:SE:LP:SS:ID  0.0465:0.0214:1.53091:8540:rs3115860
1   753541  rs1388595942    G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0609:0.0219:2.27124:8540:rs1388595942
1   754063  rs12184312  G   T   .   PASS    .   ES:SE:LP:SS:ID  0.0135:0.0417:0.127436:7911:rs12184312
1   754105  rs12184325  C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0123:0.0416:0.115091:7911:rs12184325
1   754182  rs3131969   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0452:0.0213:1.47108:8540:rs3131969
1   754192  rs3131968   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0448:0.0213:1.45284:8540:rs3131968
1   754211  rs12184313  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0144:0.0416:0.136796:7911:rs12184313
1   754334  rs3131967   T   C   .   PASS    .   ES:SE:LP:SS:ID  0.0432:0.0213:1.37141:8540:rs3131967
1   754503  rs3115859   G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0315:0.0191:1.00529:8830:rs3115859
1   754629  rs10454459  A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0156:0.0417:0.150151:7911:rs10454459
1   754964  rs3131966   C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0316:0.0191:1.01006:8830:rs3131966
1   755775  rs3131965   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0336:0.0191:1.10265:8830:rs3131965
1   755890  rs1280367067    A   T   .   PASS    .   ES:SE:LP:SS:ID  0.0412:0.0213:1.27778:8540:rs1280367067
1   756604  rs3131962   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0414:0.0212:1.28802:8540:rs3131962
1   757640  rs3115853   G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0357:0.0212:1.03626:8540:rs3115853
1   757734  rs1557551770    C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0416:0.0213:1.29697:8540:rs1557551770
1   757936  rs1360886751    C   A   .   PASS    .   ES:SE:LP:SS:ID  0.0416:0.0213:1.29697:8540:rs1360886751
1   758144  rs3131956   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0416:0.0213:1.29697:8540:rs3131956
1   758626  rs3131954   C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0407:0.0213:1.25461:8540:rs3131954
1   759036  rs114525117 G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0048:0.0413:0.041962:7911:rs114525117
1   760912  rs1048488   C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0344:0.0192:1.14225:8830:rs1048488