===Functional Annotation===
table_annovar.pl table_annovar.pl APOC3.vcf humandb/ -buildver hg19 -out APOC3_Gene.vcf -remove -nastring . -protocol refGene -operation g -vcfinput cat APOC3_Gene.vcf.hg19_multianno.txt table_annovar.pl APOC3.vcf humandb/ -buildver hg19 -out APOC3_Gene.vcf -remove -nastring . -protocol refGene,knownGene,ensGene -operation g,g,g -arg '-splicing 12 -exonicsplicing','-splicing 12 -exonicsplicing','-splicing 12 -exonicsplicing' -vcfinput awk -F'\t' '{print $1,$2,$6,$7,$8,$9,$10}' APOC3_Gene.vcf.hg19_multianno.txt table_annovar.pl APOC3.vcf humandb/ -buildver hg19 -out APOC3_Region.vcf -remove -nastring . -protocol phastConsElements46way -operation r -vcfinput table_annovar.pl APOC3.vcf humandb/ -buildver hg19 -out APOC3_Region.vcf -remove -nastring . -protocol gwasCatalog -operation r -vcfinput table_annovar.pl APOC3.vcf humandb/ -buildver hg19 -out APOC3_Filter.vcf -remove -nastring . -protocol gnomad_genome,gnomad_exome,popfreq_max_20150413,gme,avsnp150,dbnsfp33a,dbscsnv11,cadd13gt20,clinvar_20170905,gwava -operation f,f,f,f,f,f,f,f,f,f -vcfinput awk -F'\t' '{print $1,$2,$103,$104}' APOC3_Filter.vcf.hg19_multianno.txt awk -F'\t' '{print $1,$2,$6,$14}' APOC3_Filter.vcf.hg19_multianno.txt awk -F'\t' '{print $1,$2,$15,$16,$17,$18,$19,$20,$21,$22}' APOC3_Filter.vcf.hg19_multianno.txt awk -F'\t' '{print $1,$2,$36,$86,$70}' APOC3_Filter.vcf.hg19_multianno.txt awk -F'\t' '{print $1,$2,$99,$100}' APOC3_Filter.vcf.hg19_multianno.txt table_annovar.pl APOC3.vcf humandb/ -buildver hg19 -out APOC3_ANN.vcf -remove -nastring . -protocol refGene,knownGene,ensGene,wgRna,targetScanS,phastConsElements46way,tfbsConsSites,gwasCatalog,gnomad_genome,gnomad_exome,popfreq_max_20150413,gme,avsnp150,dbnsfp33a,dbscsnv11,cadd13gt20,clinvar_20170905,gwava -operation g,g,g,r,r,r,r,r,f,f,f,f,f,f,f,f,f,f -arg '-splicing 12 -exonicsplicing','-splicing 12 -exonicsplicing','-splicing 12 -exonicsplicing',,,,,,,,,,,,,,, -vcfinput
===GenABEL===
results(testb.qt)$P1df[results(testb.qt)$P1df < alpha]
results(testb.qt)$Pc1df[results(testb.qt)$Pc1df < alpha]
===GxG Interaction===
./plink --noweb --ped simcasecon.ped --map simcasecon.map --assoc
./plink --noweb --ped simcasecon.ped --map simcasecon.map --fast-epistasis
./plink --noweb --ped simcasecon.ped --map simcasecon.map --fast-epistasis --case-only
./plink --noweb --ped simcasecon.ped --map simcasecon.map --epistasis
./plink --noweb --ped simcasecon.ped --map simcasecon.map --recodeA --out recoded
./plink --noweb --ped simcasecon.ped --map simcasecon.map --make-bed --out cassiformat
R
# The following commands are in the R environment
je <-read.table("cassi.out", header=T)
je
library(ORMDR)
recoded<-read.table("recoded.raw", header=T)
head(recoded)
newdata<-recoded[7:106]
ormdrdata<-cbind(newdata,recoded$PHENOTYPE-1)
names(ormdrdata)[101]<-"casestatus"
head(ormdrdata)
mdr1<-mdr.c(ormdrdata, colresp=101, cs=1, combi=1, cv.fold = 10)
mdr1$min.comb
mdr2<-mdr.c(ormdrdata, colresp=101, cs=1, combi=2, cv.fold = 10)
mdr2$min.comb
mdr3<-mdr.c(ormdrdata, colresp=101, cs=1, combi=3, cv.fold = 10)
mdr3$min.comb
mdr1$test.erate
mdr2$test.erate
mdr3$test.erate
mdr1mean<-mean(mdr1$test.erate)
mdr2mean<-mean(mdr2$test.erate)
mdr3mean<-mean(mdr3$test.erate)
mdr1mean
mdr2mean
mdr3mean
mdr2$best.combi
mdr2$min.comb
mdr3$best.combi
mdr3$min.comb
logreg12<-glm(casestatus ~ factor(snp1_2)*factor(snp2_1), family=binomial,
data=ormdrdata)
summary(logreg12)
anova(logreg12)
pchisq(701.68,4,lower.tail=F)
pchisq(703.82,8,lower.tail=F)
logreg345<-glm(casestatus ~ factor(snp3_2)*factor(snp4_2)*factor(snp5_2),
family=binomial, data=ormdrdata)
summary(logreg345)
anova(logreg345)
pchisq(45.6,8,lower.tail=F)
q()
### The following commands are in the linux shell
./BEAM3 beam3data.txt -o beam3results
./BEAM3 beam3data.txt -o beam3results -T 10
===Plink - Part 1 - Data QC===
===Seqspark===
hdfs dfs -put demo.vcf.bz2
hdfs dfs -put demo.tsv
seqspark annotation.conf
seqspark qc.conf
seqspark demo.conf
===VAT===
vtools -h
vtools init VATDemo