Changes
From Statistical Genetics Courses
/* VAT */
==GeneABEL==
plink --file GWAS_clean4 --pheno pheno.phen --pheno-name Aff --transpose --recode --out gwa_gabel --noweb
plink --file GWAS_clean4 --pheno pheno.phen --pheno-name systolic --transpose --recode --out gwa_gabel_qtl --noweb
descriptives.scan(test.eg)
snp.eg <- row.names(results(test.eg))[results(test.eg)$P1df < alpha]
pvalue.eg <- results(test.eg)$P1df[results(test.eg)$P1df < alpha] lambda.eg <- test.eg@lambda
snp.eg
pvalue.eg
plot(test.qt, col = "black")
add.plot(test.eg, col = "gray", pch = 3)
legend("topright", c("Original plot","After correction w/ EIGENSTRAT"), pch = c(1,3))==Imputation exercise== plink --file chr22_imputation_ex --noweb plink --file chr22_imputation_ex --maf 0.01 --mind 0.02 --geno 0.05 --hwe 0.001 --out qc_check --noweb plink --file chr22_imputation_ex --maf 0.01 --mind 0.02 --geno 0.05 --hwe 0.001 --recode --out chr22_clean1 --noweb plink --file chr22_clean1 --maf 0.01 --mind 0.02 --geno 0.05 --hwe 0.001 --out qc_check_2 --noweb plink --file chr22_clean1 --filter-cases --hwe 0.001 --recode --out chr22_cases_clean --noweb plink --file chr22_clean1 --filter-controls --recode --out chr22_controls_clean --noweb plink --file chr22_controls_clean --merge chr22_cases_clean.ped chr22_cases_clean.map --hwe 0.001 --recode --out chr22_all_clean --noweb plink --file chr22_all_clean --logistic --out chr22_all_clean_geno --noweb R mydata = read.table("chr22_all_clean_geno.assoc.logistic", header=T) names(mydata) plot(mydata$BP, -log10(mydata$P)) smallp = mydata[which(mydata$P < 1E-4),] smallp smallp = smallp[order(smallp$BP),] smallp q() mach1 --hapmapFormat -d chr22_mach_merlin.map -p chr22_mach_merlin.ped --haps genotypes_chr22_CEU_r22_nr.b36_fwd.phase.gz --snps genotypes_chr22_CEU_r22_nr.b36_fwd_legend.txt.gz --greedy --rounds 100 --mle --mldetails --autoflip -o chr22_HIHII plink --dosage chr22_HIHII_dose_mach4plink.txt.gz Zin --fam chr22_imputation_ex.fam --map chr22_imputed_snps_positions.map --out chr22_HIHII_dosage --noweb R dosage = read.table("chr22_HIHII_dosage.assoc.dosage", header= T) names(dosage) plot(dosage$BP, -log10(dosage$P)) dosagep = dosage[which(dosage$P < 5E-8),] dosagep = dosagep[order(dosagep$BP),] dosagep interest = dosage[which(dosage$SNP=='rs715586'),] interest
==GWAS Data QC==
plink --file GWAS --noweb
plink --file GWAS --mind 0.10 --recode --out GWAS_clean_mind --noweb
hwe_prob
q()
plink --file GWAS_clean3 --exclude HWE_out.txt --recode --out GWAS_clean4 --noweb ==GWAS Control Substructure==
plink --file GWAS_clean4 --genome --mds-plot 10 --noweb
gws_unadj = aff_unadj[which(aff_unadj$P < 0.0000001),]
gws_unadj
gws_adjusted = aff_C1C2[which(aff_C1C2$P < 0.0000001),] gws_adjusted
q()
==VAT==
vtools -h
vtools init VATDemo
vtools import *.vcf.gz --var_info DP filter --geno_info DP_geno --build hg18 -j1
vtools liftover hg19
head phenotypes.csv
vtools phenotype --from_file phenotypes.csv --delimiter ","
vtools show project
vtools show tables
vtools show table variant
vtools show samples
vtools show genotypes
vtools show fields
vtools select variant --count
vtools show genotypes > GenotypeSummary.txt
head GenotypeSummary.txt
vtools output variant "max(DP)" "min(DP)" "avg(DP)" "stdev(DP)" "lower_quartile(DP)" "upper_quartile(DP)" --header
vtools select variant "filter='PASS'" --count
vtools select variant "filter='PASS'" -o "max(DP)" "min(DP)" "avg(DP)" "stdev(DP)" "lower_quartile(DP)" "upper_quartile(DP)" --header
vtools update variant --from_stat 'total=#(GT)' 'num=#(alt)' 'het=#(het)' 'hom=#(hom)' 'other=#(other)' 'minDP=min(DP_geno)' 'maxDP=max(DP_geno)' 'meanDP=avg(DP_geno)' 'maf=maf()'
vtools show fields
vtools show table variant
vtools update variant --from_stat 'totalGD10=#(GT)' 'numGD10=#(alt)' 'hetGD10=#(het)' 'homGD10=#(hom)' 'otherGD10=#(other)' 'mafGD10=maf()' --genotypes "DP_geno > 10"
vtools show fields
vtools show table variant
vtools output variant chr pos maf mafGD10 --header --limit 20
vtools phenotype --set "RACE=0" --samples "filename like 'YRI%'"
vtools phenotype --set "RACE=1" --samples "filename like 'CEU%'"
vtools show samples --limit 10
vtools update variant --from_stat 'CEU_mafGD10=maf()' --genotypes 'DP_geno>10' --samples "RACE=1"
vtools update variant --from_stat 'YRI_mafGD10=maf()' --genotypes 'DP_geno>10' --samples "RACE=0"
vtools output variant chr pos mafGD10 CEU_mafGD10 YRI_mafGD10 --header --limit 10
vtools phenotype --from_stat 'CEU_totalGD10=#(GT)' 'CEU_numGD10=#(alt)' --genotypes 'DP_geno>10' --samples "RACE=1"
vtools phenotype --from_stat 'YRI_totalGD10=#(GT)' 'YRI_numGD10=#(alt)' --genotypes 'DP_geno>10' --samples "RACE=0"
vtools phenotype --output sample_name CEU_totalGD10 CEU_numGD10 YRI_totalGD10 YRI_numGD10 --header
vtools select variant 'maf>=0.01' -t variant_MAFge01 'Variants that have MAF >= 0.01'
vtools show tables
vtools execute KING --var_table variant_MAFge01
vtools_report plot_pheno_fields KING_MDS1 KING_MDS2 RACE --dot KING.mds.race.pdf --discrete_color Dark2
vtools_report plot_pheno_fields KING_MDS1 KING_MDS2 panel --dot KING.mds.panel.pdf --discrete_color Dark2
vtools execute ANNOVAR geneanno
vtools output variant chr pos ref alt mut_type --limit 20 --header
vtools_report trans_ratio variant -n num
vtools_report trans_ratio variant -n numGD10
vtools select variant "DP<15" -t to_remove
vtools show tables
vtools remove variants to_remove -v0
vtools show tables
vtools remove genotypes "DP_geno<10" -v0 <br />vtools select variant "mut_type like 'non%' or mut_type like 'stop%' or region_type='splicing'" -t v_funct <br />vtools show tables <br />vtools show samples --limit 5 <br />vtools select variant --samples "RACE=1" -t CEU <br />mkdir -p ceu <br />cd ceu <br />vtools init ceu --parent ../ --variants CEU --samples "RACE=1" --build hg19
vtools show project
vtools select variant "CEU_mafGD10>=0.05" -t common_ceu
vtools select v_funct "CEU_mafGD10<0.01" -t rare_ceu <br />vtools use refGene <br />vtools show annotation refGene <br />vtools associate -h <br />vtools show tests <br />vtools show test LinRegBurden <br />vtools associate common_ceu BMI --covariate SEX -m "LinRegBurden --alternative 2" -j1 --to_db EA_CV > EA_CV.asso.res
grep -i error *.log
less EA_CV.asso.res
sort -g -k7 EA_CV.asso.res | head
vtools show fields
vtools associate rare_ceu BMI --covariate SEX -m "LinRegBurden --alternative 2" -g refGene.name2 -j1 --to_db EA_RV > EA_RV.asso.res
grep -i error *.log | tail -22
less EA_RV.asso.res
sort -g -k6 EA_RV.asso.res | head
vtools associate rare_ceu BMI --covariate SEX -m "VariableThresholdsQt --alternative 2 -p 100000 --adaptive 0.0005" -g refGene.name2 -j1 --to_db EA_RV > EA_RV_VT.asso.res
grep -i error *.log | tail -22
less EA_RV_VT.asso.res
sort -g -k6 EA_RV_VT.asso.res | head
vtools select rare_ceu "refGene.name2='ABCC1'" -o chr pos ref alt CEU_mafGD10 numGD10 mut_type --header
vtools_report plot_association qq -o QQRV -b --label_top 2 -f 6 < EA_RV.asso.res
vtools_report plot_association manhattan -o MHRV -b --label_top 5 --color Dark2 --chrom_prefix None -f 6 < EA_RV.asso.res <br />vtools associate rare_ceu BMI --covariate SEX KING_MDS1 KING_MDS2 -m "LinRegBurden --name RVMDS2 --alternative 2" -g refGene.name2 -j1 --to_db EA_RV > EA_RV_MDS2.asso.res
vtools_report plot_association qq -o QQRV_MDS2 -b --label_top 2 -f 6 < EA_RV_MDS2.asso.res <br />cd .. <br />vtools select variant --samples "RACE=0" -t YRI <br />mkdir -p yri <br />cd yri <br />vtools init yri --parent ../ --variants YRI --samples "RACE=0" --build hg19 <br />vtools select variant "YRI_mafGD10>=0.05" -t common_yri
vtools select v_funct "YRI_mafGD10<0.01" -t rare_yri <br />vtools use refGene <br />vtools associate common_yri BMI --covariate SEX -m "LinRegBurden --alternative 2" -j1 --to_db YA_CV > YA_CV.asso.res
vtools associate rare_yri BMI --covariate SEX -m "LinRegBurden --alternative 2" -g refGene.name2 -j1 --to_db YA_RV > YA_RV.asso.res
vtools associate rare_yri BMI --covariate SEX -m "VariableThresholdsQt --alternative 2 -p 100000 --adaptive 0.0005" -g refGene.name2 -j1 --to_db YA_RV > YA_RV_VT.asso.res
cd ..
vtools_report meta_analysis ceu/EA_RV_VT.asso.res yri/YA_RV_VT.asso.res --beta 5 --pval 6 --se 7 -n 2 --link 1 > META_RV_VT.asso.res
cut -f1,3 META_RV_VT.asso.res | head
