all separate estimation

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setwd("/storage11_7T/fuy/TADA-A/annotation")
a = readRDS(paste0("/storage11_7T/fuy/TADA-A/annotation/2020-08-28","_all_RR.rds"))
b = readRDS("denovo_df.rds")
d = rbind(a,b)
e = d[order(-d$relative_risk),]
e$idx = 1:nrow(e)
e
A data.frame: 22 × 5
logRRlower_boundupper_boundannotaidx
<dbl><dbl><dbl><chr><int>
51 3.1078241 1.6900099 4.5256384pLI_nlt_995.gnomad.v2.1.1.all_lofs 6
41 2.2739992 1.6665827 2.8814158pLI_lt05.gnomad.v2.1.1.all_lofs 7
22 2.2615612 1.6800949 2.8430276gnomad.v2.1.1.all_lofs 8
14 2.1166764-0.2095761 4.4429289pLI_nlt_09.gnomad.v2.1.1.all_lofs 9
2 1.8723460 1.6331143 2.1115778annova_lof 10
7 1.8200768 1.5566559 2.0834977MPC_gt2 11
6 1.4764815 1.2682661 1.6846969spidex_lt10 12
3 1.3286583 1.0802172 1.5770995coding_constraint_regions_gt90 13
4 1.2019536 1.0027889 1.4011183MVP_all_rare_missense_pathogen_gt_7 14
9 1.1630679-1.2117190 3.5378548CLIPdb005 15
5 1.0677442 0.7807190 1.3547694primateAI_exome_mutation_pathogen_gt_80 16
21 0.8484629 0.7036579 0.9932679annova_mis_lof 17
8 0.1276963-1.7924259 2.0478185ribosnitch01 18
31-1.0000000-9.9236275 7.9236275pLI_05_995.gnomad.v2.1.1.all_lofs 19
11-1.0000000-1.6844744-0.3155256annova_syn 20
1-1.0000000-1.7410982-0.2589018annov_missense 21
12-1.0000000-5.8501671 3.8501672RBP01 22
120.76889210.08826144 1.449523RADAR_RBP.top5% 23

pLI

  • pLI is from pLI.gnomad.v2.1.1.lof_metrics.by_gene
  • lof snv is from pLI.gnomad.v2.1.1.lof.snv.bed
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e2[c(2,5,15,3),]
A data.frame: 4 × 5
relative_risklower_boundupper_bourndannotaidx
<dbl><dbl><dbl><chr><int>
51 3.107824 1.69000994.525638pLI_nlt_995 2
14 2.116676-0.20957614.442929pLI_nlt_09 5
31-1.000000-9.92362757.923628pLI_05_995 15
41 2.273999 1.66658272.881416pLI_lt05 3

lof and missense

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e2[c(4,6,13,17),]
A data.frame: 4 × 5
relative_risklower_boundupper_bourndannotaidx
<dbl><dbl><dbl><chr><int>
22 2.2615612 1.6800949 2.8430276gnomad.v2.1.1.all_lofs 4
2 1.8723460 1.6331143 2.1115778annova_lof 6
21 0.8484629 0.7036579 0.9932679annova_mis_lof 13
1-1.0000000-1.7410982-0.2589018annov_missense 17

PTV

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e2[c(11,14,18),]
A data.frame: 3 × 5
relative_risklower_boundupper_bourndannotaidx
<dbl><dbl><dbl><chr><int>
9 1.1630679-1.2117193.537855CLIPdb005 11
8 0.1276963-1.7924262.047818ribosnitch0114
12-1.0000000-5.8501673.850167RBP01 18