Last updated: 2024-03-28

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Knit directory: coxPHSuSIE-data-application/

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Rmd 9bdf1a9 yunqiyang0215 2024-03-28 wflow_publish("analysis/ukb_asthma.Rmd")

Description: CoxPH-SuSIE result for Asthma using all the cases from UKB. Number of controls is twice as number of cases. In total, 80694 individuals used in fitting.

library(survival)
library(susieR)
devtools::load_all("/Users/nicholeyang/Downloads/logisticsusie")
ℹ Loading logisticsusie

1. Chr2

res = readRDS("/Users/nicholeyang/Downloads/survivalsusie/result/asthma/fit.susie.chr2.rds")
snp_list = read.csv("/Users/nicholeyang/Downloads/survivalsusie/data/ukb_trait_gwas/asthma/chr2.csv")

fit = res[[1]]
X = res[[2]]
pip <- logisticsusie:::get_pip(fit$alpha)
effect_estimate <- colSums(fit$alpha * fit$mu)
pip.sorted = sort(pip, decreasing = TRUE)
pip.sorted[1:10]
 [1] 0.12659903 0.12600012 0.11068600 0.10921198 0.10349548 0.09637557
 [7] 0.09631027 0.09343229 0.07515108 0.07385403
class(fit) = "susie"
cs <- susie_get_cs(fit, X)
cs
$cs
$cs$L2
 [1]  905  915  917  925  933  935  936  953  958  960  967  970  984 1018 1021
[16] 1024 1029 1033

$cs$L1
 [1]  896  901  903  909  913  914  916  918  920  921  922  926  927  928  940
[16]  942  943  944  945  951  956  962  977 1092


$purity
   min.abs.corr mean.abs.corr median.abs.corr
L2    0.9228637     0.9601091       0.9408674
L1    0.7119415     0.9710065       0.9962000

$cs_index
[1] 2 1

$coverage
[1] 0.9561844 0.9536636

$requested_coverage
[1] 0.95
par(mfrow = c(1,2))
snps1 = colnames(X)[cs$cs$L1]
snp_names1 = unlist(lapply(snps1, function(x) unlist(strsplit(x, "_"))[1]))
colors <- ifelse(snp_list$Variant %in% snp_names1, "red", "black")
plot(-log10(snp_list$p.value), col = colors, xlab = "SNP", ylab = "-log10(p-value)", cex = 0.8)

snps2 = colnames(X)[cs$cs$L2]
snp_names2 = unlist(lapply(snps2, function(x) unlist(strsplit(x, "_"))[1]))
colors <- ifelse(snp_list$Variant %in% snp_names2, "red", "black")
plot(-log10(snp_list$p.value), col = colors, xlab = "SNP", ylab = "-log10(p-value)", cex = 0.8)

cbind(snp_list[snp_list$Variant %in% snp_names1, ], pip[sort(cs$cs$L1)])
        Variant  Position Eff..Allele      Trait       Beta    p.value      MAF
944  rs13418548 102917239           T J45 Asthma -0.0085712 2.4895e-33 0.138653
949  rs72823619 102924615           T J45 Asthma -0.0086009 1.4558e-33 0.138507
951  rs72823621 102925435           T J45 Asthma -0.0085984 1.5065e-33 0.138502
957  rs72823628 102928617           A J45 Asthma -0.0086491 7.7125e-34 0.138377
961  rs72823632 102931534           C J45 Asthma  0.0084203 2.1413e-32 0.139900
962  rs72823635 102931612           C J45 Asthma -0.0085851 1.7578e-33 0.138519
964    rs950881 102932512           T J45 Asthma -0.0085852 1.7611e-33 0.138514
966  rs10179458 102934974           T J45 Asthma -0.0085838 1.8251e-33 0.138552
968  rs72823641 102936159           A J45 Asthma -0.0086391 1.0791e-33 0.137774
969  rs10189154 102937544           T J45 Asthma -0.0085841 1.8664e-33 0.138491
970  rs10189526 102937883           T J45 Asthma -0.0085844 1.8600e-33 0.138491
974  rs11679893 102941037           A J45 Asthma -0.0085816 1.9459e-33 0.138500
975  rs10865050 102941311           A J45 Asthma -0.0085911 1.6466e-33 0.138537
976  rs59185885 102944246           G J45 Asthma -0.0087416 1.2002e-33 0.135904
989   rs3771180 102953617           G J45 Asthma  0.0085956 1.5666e-33 0.138600
991  rs72823646 102954213           G J45 Asthma  0.0086601 5.6507e-34 0.138400
992  rs13431828 102954653           T J45 Asthma -0.0086277 8.5339e-34 0.138456
993  rs13408569 102955056           C J45 Asthma -0.0086301 1.0795e-33 0.138159
994  rs13408661 102955082           A J45 Asthma -0.0086167 1.1104e-33 0.138358
1000 rs10173081 102957348           T J45 Asthma -0.0086458 6.3205e-34 0.138459
1005  rs3771175 102960210           A J45 Asthma -0.0086853 3.5139e-34 0.138236
1011  rs2160203 102960824           A J45 Asthma  0.0066426 2.9540e-30 0.234500
1026 rs10197862 102966549           G J45 Asthma -0.0086934 2.4216e-34 0.138809
1144 rs11679146 103009412           G J45 Asthma -0.0084320 2.6465e-32 0.139385
        HWE imp..score ORbeta. pip[sort(cs$cs$L1)]
944  0.5800   0.996718   0.865          0.03214973
949  0.5799   0.998479   0.865          0.03990144
951  0.5848    0.99868   0.865          0.04018594
957  0.6401   0.997216   0.864          0.05072795
961  0.9886  genotyped   1.150          0.02365038
962  0.5653   0.999916   0.865          0.04272669
964  0.5653    0.99987   0.865          0.04056136
966  0.5800   0.999501   0.865          0.03394787
968  0.6183   0.996751   0.864          0.07515108
969  0.5947   0.999439   0.865          0.03940760
970  0.5947   0.999431   0.865          0.03944474
974  0.5898   0.999388   0.865          0.03699369
975  0.5898   0.999257   0.865          0.04495545
976  0.7004    0.98584   0.863          0.07385403
989  0.7628  genotyped   1.160          0.02107095
991  0.5503  genotyped   1.160          0.04513746
992  0.4590   0.999936   0.865          0.03307782
993  0.5314   0.998158   0.865          0.03698333
994  0.5314   0.999656   0.865          0.03441533
1000 0.4678   0.999763   0.864          0.03312288
1005 0.3681   0.999819   0.864          0.03444698
1011 0.8786  genotyped   1.120          0.11068600
1026 0.3971   0.999432   0.864          0.02173472
1144 0.8183   0.991341   0.867          0.01587537
cbind(snp_list[snp_list$Variant %in% snp_names2, ], pip[sort(cs$cs$L2)])
        Variant  Position Eff..Allele      Trait       Beta    p.value      MAF
953  rs12470864 102926362           A J45 Asthma  0.0052645 2.3980e-25 0.388022
963  rs13020553 102931826           G J45 Asthma  0.0052433 3.6678e-25 0.387940
965    rs950880 102932562           A J45 Asthma  0.0052442 3.4806e-25 0.388078
973  rs13001325 102939036           T J45 Asthma  0.0052432 3.6061e-25 0.387831
982   rs1420104 102948470           A J45 Asthma  0.0052456 3.4234e-25 0.387845
984  rs12479210 102949161           T J45 Asthma  0.0052375 3.9868e-25 0.388113
985  rs13019081 102950822           C J45 Asthma  0.0052479 3.2522e-25 0.387923
1002  rs1420101 102957716           C J45 Asthma -0.0051964 1.3089e-24 0.383200
1007 rs13001714 102960485           G J45 Asthma  0.0049912 4.4775e-23 0.395378
1009 rs12712142 102960584           A J45 Asthma  0.0049905 4.5372e-23 0.395372
1016  rs6543119 102963072           T J45 Asthma  0.0049767 5.8362e-23 0.395147
1019 rs13017455 102964742           T J45 Asthma  0.0049720 6.4183e-23 0.395141
1034 rs11123923 102967844           A J45 Asthma  0.0049255 1.5515e-22 0.395308
1070 rs12999364 102974129           T J45 Asthma  0.0048687 4.8605e-22 0.395197
1073 rs12998521 102974417           T J45 Asthma  0.0048764 4.1821e-22 0.395124
1076 rs12987977 102975336           G J45 Asthma  0.0048660 4.9905e-22 0.395259
1081  rs6710885 102977537           G J45 Asthma  0.0048457 7.4237e-22 0.395409
1085  rs2287037 102979028           T J45 Asthma  0.0048742 4.3554e-22 0.395228
          HWE imp..score ORbeta. pip[sort(cs$cs$L2)]
953  0.059240    0.99821   1.090          0.09637557
963  0.071160   0.998523   1.090          0.09343229
965  0.071730   0.999009   1.090          0.09631027
973  0.102100   0.998854   1.090          0.12600012
982  0.102800     0.9989   1.090          0.12659903
984  0.094820   0.998988   1.090          0.10921198
985  0.096220   0.998889   1.090          0.10349548
1002 0.030980  genotyped   0.916          0.02621916
1007 0.016400   0.998184   1.090          0.03997766
1009 0.016240   0.998234   1.090          0.03951407
1016 0.016250   0.998927   1.090          0.03099621
1019 0.015470   0.998914   1.090          0.02991167
1034 0.018500   0.999374   1.090          0.02003653
1070 0.008091   0.999201   1.090          0.01108302
1073 0.007508   0.999317   1.090          0.01076613
1076 0.007516   0.999699   1.090          0.01091230
1081 0.007603   0.999301   1.090          0.01108080
1085 0.008263   0.999059   1.090          0.01160350

2. Chr9

res = readRDS("/Users/nicholeyang/Downloads/survivalsusie/result/asthma/fit.susie.chr9.rds")
snp_list = read.csv("/Users/nicholeyang/Downloads/survivalsusie/data/ukb_trait_gwas/asthma/chr9.csv")

fit = res[[1]]
X = res[[2]]
pip <- logisticsusie:::get_pip(fit$alpha)
effect_estimate <- colSums(fit$alpha * fit$mu)
pip.sorted = sort(pip, decreasing = TRUE)
pip.sorted[1:10]
 [1] 0.40954553 0.21636080 0.11209570 0.09420798 0.08412193 0.06477252
 [7] 0.04327661 0.04199622 0.04030594 0.03742091
class(fit) = "susie"
cs <- susie_get_cs(fit, X)
cs
$cs
$cs$L1
[1] 5831 5859 5861 5864 5865 5866


$purity
   min.abs.corr mean.abs.corr median.abs.corr
L1    0.9510112     0.9761775       0.9766704

$cs_index
[1] 1

$coverage
[1] 0.950395

$requested_coverage
[1] 0.95
snps1 = colnames(X)[cs$cs$L1]
snp_names1 = unlist(lapply(snps1, function(x) unlist(strsplit(x, "_"))[1]))
colors <- ifelse(snp_list$Variant %in% snp_names1, "red", "black")
plot(-log10(snp_list$p.value), col = colors, xlab = "SNP", ylab = "-log10(p-value)", cex = 0.8)

cbind(snp_list[snp_list$Variant %in% snp_names1, ], pip[sort(cs$cs$L1)])
       Variant Position Eff..Allele      Trait       Beta    p.value      MAF
7573 rs1888909  6197392           C J45 Asthma -0.0064611 2.0887e-30 0.255681
7616  rs992969  6209697           G J45 Asthma -0.0065880 3.3655e-31 0.252505
7618 rs3939286  6210099           C J45 Asthma -0.0065528 6.0024e-31 0.253474
7623  rs928412  6213148           G J45 Asthma -0.0064457 2.4788e-30 0.259680
7624  rs928413  6213387           A J45 Asthma -0.0064305 3.5724e-30 0.259638
7625 rs7848215  6213468           T J45 Asthma  0.0064367 2.4806e-30 0.261646
        HWE imp..score ORbeta. pip[sort(cs$cs$L1)]
7573 0.8121   0.997813   0.897          0.09420798
7616 0.8492   0.994159   0.895          0.08412193
7618 0.8602    0.99373   0.895          0.03701616
7623 0.7965   0.988725   0.897          0.21636080
7624 0.7454   0.987443   0.897          0.11209570
7625 0.6071   0.985322   1.110          0.40954553

3. Chr10

res = readRDS("/Users/nicholeyang/Downloads/survivalsusie/result/asthma/fit.susie.chr10.rds")
snp_list = read.csv("/Users/nicholeyang/Downloads/survivalsusie/data/ukb_trait_gwas/asthma/chr10.csv")

fit = res[[1]]
X = res[[2]]
pip <- logisticsusie:::get_pip(fit$alpha)
effect_estimate <- colSums(fit$alpha * fit$mu)
pip.sorted = sort(pip, decreasing = TRUE)
pip.sorted[1:10]
 [1] 0.75379336 0.13304974 0.11403135 0.10990049 0.09192136 0.09115752
 [7] 0.09026118 0.08606951 0.08131724 0.07832910
class(fit) = "susie"
cs <- susie_get_cs(fit, X)
cs
$cs
$cs$L1
[1] 3257 3260 3273

$cs$L2
 [1] 3255 3271 3275 3281 3282 3286 3310 3313 3314 3317 3321 3323 3324 3326


$purity
   min.abs.corr mean.abs.corr median.abs.corr
L1    0.9786838     0.9857515       0.9788382
L2    0.9457414     0.9885657       0.9949224

$cs_index
[1] 1 2

$coverage
[1] 0.9996979 0.9548856

$requested_coverage
[1] 0.95
par(mfrow = c(1,2))
snps1 = colnames(X)[cs$cs$L1]
snp_names1 = unlist(lapply(snps1, function(x) unlist(strsplit(x, "_"))[1]))
colors <- ifelse(snp_list$Variant %in% snp_names1, "red", "black")
plot(-log10(snp_list$p.value), col = colors, xlab = "SNP", ylab = "-log10(p-value)", cex = 0.8)

snps2 = colnames(X)[cs$cs$L2]
snp_names2 = unlist(lapply(snps2, function(x) unlist(strsplit(x, "_"))[1]))
colors <- ifelse(snp_list$Variant %in% snp_names2, "red", "black")
plot(-log10(snp_list$p.value), col = colors, xlab = "SNP", ylab = "-log10(p-value)", cex = 0.8)

cbind(snp_list[snp_list$Variant %in% snp_names1, ], pip[sort(cs$cs$L1)])
         Variant Position Eff..Allele      Trait       Beta    p.value      MAF
3707 rs186856025  9043457           T J45 Asthma -0.0084853 9.9405e-27 0.108472
3711 rs144536148  9043827           G J45 Asthma -0.0084596 1.4218e-26 0.108446
3730  rs12413578  9049253           C J45 Asthma  0.0090884 1.9292e-29 0.104700
         HWE imp..score ORbeta. pip[sort(cs$cs$L1)]
3707 0.07730   0.995738   0.867           0.1330497
3711 0.07430   0.995819   0.867           0.1140313
3730 0.00481  genotyped   1.170           0.7537934
cbind(snp_list[snp_list$Variant %in% snp_names2, ], pip[sort(cs$cs$L2)])
       Variant Position Eff..Allele      Trait       Beta    p.value      MAF
3705 rs4379740  9043304           C J45 Asthma -0.0063074 4.2060e-23 0.183573
3726 rs2589561  9046645           G J45 Asthma -0.0064641 1.5787e-24 0.186989
3737 rs2440781  9051328           G J45 Asthma -0.0064489 1.7169e-24 0.187084
3745 rs1775550  9052742           A J45 Asthma -0.0064589 1.3834e-24 0.187020
3746 rs1775551  9053043           A J45 Asthma -0.0064587 1.3830e-24 0.187018
3750 rs2797288  9053173           A J45 Asthma -0.0064583 1.3873e-24 0.187019
3780  rs957349  9060106           A J45 Asthma -0.0064220 1.7367e-24 0.188011
3784 rs2589559  9061370           T J45 Asthma -0.0063901 2.6609e-24 0.188148
3786 rs6602349  9061798           C J45 Asthma  0.0064041 2.4539e-24 0.187651
3789 rs2589563  9062283           T J45 Asthma  0.0063993 2.6967e-24 0.187669
3794  rs725861  9063776           G J45 Asthma  0.0064032 2.9496e-24 0.187993
3796 rs1444788  9064120           C J45 Asthma  0.0063986 3.4764e-24 0.187840
3797 rs1444789  9064361           C J45 Asthma  0.0065151 8.0324e-25 0.187046
3800 rs1612986  9064716           C J45 Asthma  0.0065782 4.2134e-25 0.186262
         HWE imp..score ORbeta. pip[sort(cs$cs$L2)]
3705 0.22550   0.989928   0.899          0.01346967
3726 0.22170   0.990368   0.897          0.05064650
3737 0.16440   0.993703   0.897          0.06073385
3745 0.21350   0.994702   0.897          0.04584792
3746 0.21140   0.994807   0.897          0.04556969
3750 0.21140   0.994853   0.897          0.04538613
3780 0.14820   0.998413   0.897          0.09026118
3784 0.13950        1.0   0.898          0.08131724
3786 0.09924   0.998461   1.110          0.09115752
3789 0.09815   0.998129   1.110          0.08606951
3794 0.13770   0.994312   1.110          0.09192136
3796 0.12740   0.993179   1.110          0.07083254
3797 0.17020   0.987935   1.120          0.07832910
3800 0.17970   0.983814   1.120          0.10990049

4. Chr11

res = readRDS("/Users/nicholeyang/Downloads/survivalsusie/result/asthma/fit.susie.chr11.rds")
snp_list = read.csv("/Users/nicholeyang/Downloads/survivalsusie/data/ukb_trait_gwas/asthma/chr11.csv")

fit = res[[1]]
X = res[[2]]
pip <- logisticsusie:::get_pip(fit$alpha)
effect_estimate <- colSums(fit$alpha * fit$mu)
pip.sorted = sort(pip, decreasing = TRUE)
pip.sorted[1:10]
 [1] 0.14581069 0.13060580 0.12455119 0.09025837 0.08199867 0.07153539
 [7] 0.06050408 0.06042270 0.05690411 0.05510812
class(fit) = "susie"
cs <- susie_get_cs(fit, X)
cs
$cs
$cs$L1
 [1] 3042 3050 3051 3054 3056 3057 3060 3063 3067 3078 3085 3088


$purity
   min.abs.corr mean.abs.corr median.abs.corr
L1    0.8998104     0.9528013       0.9497999

$cs_index
[1] 1

$coverage
[1] 0.9565108

$requested_coverage
[1] 0.95
snps1 = colnames(X)[cs$cs$L1]
snp_names1 = unlist(lapply(snps1, function(x) unlist(strsplit(x, "_"))[1]))
colors <- ifelse(snp_list$Variant %in% snp_names1, "red", "black")
plot(-log10(snp_list$p.value), col = colors, xlab = "SNP", ylab = "-log10(p-value)", cex = 0.8)

cbind(snp_list[snp_list$Variant %in% snp_names1, ], pip[sort(cs$cs$L1)])
        Variant Position Eff..Allele      Trait       Beta    p.value      MAF
3930 rs61893460 76291154           G J45 Asthma -0.0045000 9.1769e-20 0.453400
3938  rs7126418 76292573           T J45 Asthma  0.0044926 9.4122e-20 0.452657
3939  rs7110818 76292575           T J45 Asthma  0.0044764 1.3337e-19 0.451899
3942  rs7936070 76293527           T J45 Asthma  0.0046871 1.6687e-21 0.477627
3944  rs7936312 76293726           T J45 Asthma  0.0046882 1.6288e-21 0.477549
3946  rs7936323 76293758           A J45 Asthma  0.0046895 1.6055e-21 0.477515
3949  rs7936434 76293805           C J45 Asthma  0.0046575 2.9680e-21 0.477846
3952  rs4494327 76294836           T J45 Asthma  0.0046522 3.1316e-21 0.496016
3958 rs11236791 76295598           A J45 Asthma  0.0045039 7.4426e-20 0.452618
3970 rs10160518 76296671           G J45 Asthma  0.0046629 2.5100e-21 0.496086
3977  rs2155219 76299194           T J45 Asthma  0.0046570 3.4084e-21 0.496000
3980 rs11236797 76299649           A J45 Asthma  0.0045248 5.2037e-20 0.451813
        HWE imp..score ORbeta. pip[sort(cs$cs$L1)]
3930 0.4441  genotyped   0.927          0.09025837
3938 0.7749   0.998653   1.080          0.06042270
3939 0.7854   0.997837   1.080          0.05261431
3942 0.9754   0.998469   1.080          0.12455119
3944 0.9536   0.998561   1.080          0.13060580
3946 0.9673   0.998305   1.080          0.14581069
3949 0.9836   0.998444   1.080          0.08199867
3952 0.7457    0.99832   1.080          0.04773871
3958 0.7304    0.99898   1.080          0.07153539
3970 0.7483   0.998547   1.080          0.05690411
3977 0.1560  genotyped   1.080          0.04295118
3980 0.7020    0.99829   1.080          0.06050408
cbind(snp_list[snp_list$Variant %in% snp_names2, ], pip[sort(cs$cs$L2)])
 [1] Variant             Position            Eff..Allele        
 [4] Trait               Beta                p.value            
 [7] MAF                 HWE                 imp..score         
[10] ORbeta.             pip[sort(cs$cs$L2)]
<0 rows> (or 0-length row.names)

sessionInfo()
R version 4.1.1 (2021-08-10)
Platform: x86_64-apple-darwin20.6.0 (64-bit)
Running under: macOS Monterey 12.0.1

Matrix products: default
BLAS:   /usr/local/Cellar/openblas/0.3.18/lib/libopenblasp-r0.3.18.dylib
LAPACK: /usr/local/Cellar/r/4.1.1_1/lib/R/lib/libRlapack.dylib

locale:
[1] en_US.UTF-8/en_US.UTF-8/en_US.UTF-8/C/en_US.UTF-8/en_US.UTF-8

attached base packages:
[1] stats     graphics  grDevices utils     datasets  methods   base     

other attached packages:
[1] logisticsusie_0.0.0.9004 testthat_3.1.0           susieR_0.12.35          
[4] survival_3.2-11          workflowr_1.6.2         

loaded via a namespace (and not attached):
 [1] Rcpp_1.0.8.3       lattice_0.20-44    prettyunits_1.1.1  ps_1.6.0          
 [5] rprojroot_2.0.2    digest_0.6.28      utf8_1.2.2         R6_2.5.1          
 [9] plyr_1.8.6         RcppZiggurat_0.1.6 evaluate_0.14      highr_0.9         
[13] ggplot2_3.4.3      pillar_1.9.0       rlang_1.1.1        rstudioapi_0.13   
[17] irlba_2.3.5        whisker_0.4        callr_3.7.3        jquerylib_0.1.4   
[21] Matrix_1.5-3       rmarkdown_2.11     desc_1.4.0         devtools_2.4.2    
[25] splines_4.1.1      stringr_1.4.0      munsell_0.5.0      mixsqp_0.3-43     
[29] compiler_4.1.1     httpuv_1.6.3       xfun_0.27          pkgconfig_2.0.3   
[33] pkgbuild_1.2.0     htmltools_0.5.5    tidyselect_1.2.0   tibble_3.1.5      
[37] matrixStats_0.63.0 reshape_0.8.9      fansi_0.5.0        crayon_1.4.1      
[41] dplyr_1.0.7        withr_2.5.0        later_1.3.0        grid_4.1.1        
[45] jsonlite_1.7.2     gtable_0.3.0       lifecycle_1.0.3    git2r_0.28.0      
[49] magrittr_2.0.1     scales_1.2.1       Rfast_2.0.6        cli_3.6.1         
[53] stringi_1.7.5      cachem_1.0.6       fs_1.5.0           promises_1.2.0.1  
[57] remotes_2.4.2      bslib_0.4.1        ellipsis_0.3.2     generics_0.1.2    
[61] vctrs_0.6.3        tools_4.1.1        glue_1.4.2         purrr_0.3.4       
[65] parallel_4.1.1     processx_3.8.1     pkgload_1.2.3      fastmap_1.1.0     
[69] yaml_2.2.1         colorspace_2.0-2   sessioninfo_1.1.1  memoise_2.0.1     
[73] knitr_1.36         usethis_2.1.3      sass_0.4.4