Difference between revisions of "RV-TDT"
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| − | <pre> | + | __NOTITLE__ |
| − | ### Variant Annotation | + | |
| + | ==RV-TDT== | ||
| + | <pre>### Variant Annotation | ||
vtools init rvtdt | vtools init rvtdt | ||
vtools import --format vcf data/data.vcf --build hg19 | vtools import --format vcf data/data.vcf --build hg19 | ||
| Line 8: | Line 10: | ||
vtools export func_variant --format tped --samples 'phenotype is not null' > vat_raw.tped | vtools export func_variant --format tped --samples 'phenotype is not null' > vat_raw.tped | ||
# set marker name as chr_pos, needs to avoid duplicate name | # set marker name as chr_pos, needs to avoid duplicate name | ||
| − | sort -k4 -n vat_raw.tped | awk 'BEGIN{OFS | + | sort -k4 -n vat_raw.tped | awk 'BEGIN{OFS="\t";prev="None";copy=1} {$2=$1"_"$4; $3=0; if($2==prev) {$2=$2"_"copy; copy=copy+1} else {prev=$2; copy=1}; print $0}' > vat_export.tped |
vtools phenotype --out family sample_name pid mid sex phenotype > vat_export.tfam | vtools phenotype --out family sample_name pid mid sex phenotype > vat_export.tfam | ||
vtools use refGene-hg19_20130904 | vtools use refGene-hg19_20130904 | ||
| − | vtools update func_variant --set 'maf | + | vtools update func_variant --set 'maf=0.001' # set the maf to be 0.001 |
vtools select func_variant -o chr pos refGene.name2 maf --header > vat_export.anno | vtools select func_variant -o chr pos refGene.name2 maf --header > vat_export.anno | ||
### Phasing Trio | ### Phasing Trio | ||
plink --noweb --tfile vat_export --recode12 --me 1 1 --set-me-missing --out "recode12_noME" | plink --noweb --tfile vat_export --recode12 --me 1 1 --set-me-missing --out "recode12_noME" | ||
| − | sort -n -k1 -k6 -k2 recode12_noME.ped | sed 's/ /\t/g' | cut -f1,3,4,5 --complement > linkage.ped cut -f2 recode12_noME.map | awk 'BEGIN{OFS | + | sort -n -k1 -k6 -k2 recode12_noME.ped | sed 's/ /\t/g' | cut -f1,3,4,5 --complement > linkage.ped |
| + | cut -f2 recode12_noME.map | awk 'BEGIN{OFS="\t";} {print "M",$0}' | sed '1i\I\tid\nA\tDisease' > linkage.dat | ||
java -Xmx10000m -jar java/linkage2beagle.jar linkage.dat linkage.ped > pre_beagle.bgl | java -Xmx10000m -jar java/linkage2beagle.jar linkage.dat linkage.ped > pre_beagle.bgl | ||
python script/pre_phase.py -i pre_beagle.bgl -a pre_beagle_withMissing.bgl | python script/pre_phase.py -i pre_beagle.bgl -a pre_beagle_withMissing.bgl | ||
| − | java -Xmx10000m -jar java/beagle.jar missing | + | java -Xmx10000m -jar java/beagle.jar missing=0 trios=pre_beagle.bgl out=bgl_phased verbose=false redundant=true |
gunzip bgl_phased.pre_beagle.bgl.phased.gz | gunzip bgl_phased.pre_beagle.bgl.phased.gz | ||
Latest revision as of 16:27, 22 June 2018
RV-TDT
### Variant Annotation
vtools init rvtdt
vtools import --format vcf data/data.vcf --build hg19
vtools phenotype --from_file data/phen.txt
vtools execute ANNOVAR geneanno
vtools select variant "variant.region_type like '%splicing%'or variant.mut_type like 'nonsynonymous%' or variant.mut_type like 'frameshift%' or variant.mut_type like 'stop%'" -t func_variant
vtools export func_variant --format tped --samples 'phenotype is not null' > vat_raw.tped
# set marker name as chr_pos, needs to avoid duplicate name
sort -k4 -n vat_raw.tped | awk 'BEGIN{OFS="\t";prev="None";copy=1} {$2=$1"_"$4; $3=0; if($2==prev) {$2=$2"_"copy; copy=copy+1} else {prev=$2; copy=1}; print $0}' > vat_export.tped
vtools phenotype --out family sample_name pid mid sex phenotype > vat_export.tfam
vtools use refGene-hg19_20130904
vtools update func_variant --set 'maf=0.001' # set the maf to be 0.001
vtools select func_variant -o chr pos refGene.name2 maf --header > vat_export.anno
### Phasing Trio
plink --noweb --tfile vat_export --recode12 --me 1 1 --set-me-missing --out "recode12_noME"
sort -n -k1 -k6 -k2 recode12_noME.ped | sed 's/ /\t/g' | cut -f1,3,4,5 --complement > linkage.ped
cut -f2 recode12_noME.map | awk 'BEGIN{OFS="\t";} {print "M",$0}' | sed '1i\I\tid\nA\tDisease' > linkage.dat
java -Xmx10000m -jar java/linkage2beagle.jar linkage.dat linkage.ped > pre_beagle.bgl
python script/pre_phase.py -i pre_beagle.bgl -a pre_beagle_withMissing.bgl
java -Xmx10000m -jar java/beagle.jar missing=0 trios=pre_beagle.bgl out=bgl_phased verbose=false redundant=true
gunzip bgl_phased.pre_beagle.bgl.phased.gz
### RV-TDT Analysis
python script/post_phase.py -a vat_export.anno -b bgl_phased.pre_beagle.bgl.phased -o genes/
for g in `ls genes | grep tped | cut -d"." -f1 | head -20`
do
echo "running rvTDT on gene "${g}
rvTDT exercise_proj -G ./genes/${g}.tped -P ./data/rvtdt.phen -M ./genes/${g}.map --adapt 500 --alpha 0.00001 --permut 2000 --lower_cutoff 0 --upper_cutoff 100 --minVariants 3 --maxMissRatio 1 done
done
