dad | mom | kid | Inheritance description |
---|---|---|---|
HOM_REF | HOM_REF | HOM_REF | Expected |
HOM_REF | HOM_REF | HET | Mendelian violation (plausible de novo) |
HOM_REF | HOM_REF | HOM_ALT | Mendelian violation (implausible de novo) |
HOM_REF | HOM_ALT | HOM_REF | Mendelian violation (uniparental disomy) |
HOM_REF | HOM_ALT | HET | Expected |
HOM_REF | HOM_ALT | HOM_ALT | Mendelian violation (uniparental disomy) |
HOM_REF | HET | HOM_REF | Expected |
HOM_REF | HET | HET | Expected |
View test.sh
# compile | |
$ g++ zlib-example.cpp -lz -o zlib-example | |
# run | |
$ ./zlib-example | |
Uncompressed size is: 36 | |
Uncompressed string is: Hello Hello Hello Hello Hello Hello! | |
---------- |
View make-master-hmm.sh
echo "http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmGm12878HMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmH1hescHMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmHepg2HMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmHmecHMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmHsmmHMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmHuvecHMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmK562HMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmNhekHMM.bed.gz | |
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/encodeDCC/wgEncodeBroadHmm/wgEncodeBroadHmmNhlfHMM.bed.gz" \ | |
> chromhmm-files.txt |
View go.sh
cat a.bed | |
chr1 10 50 10 | |
cat b.bed | |
chr1 20 40 20 | |
cat c.bed | |
chr1 30 33 30 | |
# Find the sub-intervals shared and unique to each file. |
View inheritance_scenarios.md
View autosomal-dominant.sh
# assumes you have SSH'ed and qlogin'ed | |
cd thu | |
cd mydata | |
# slide 5 | |
curl https://s3.amazonaws.com/gemini-tutorials/trio.trim.vep.vcf.gz > trio.trim.vep.vcf.gz | |
curl https://s3.amazonaws.com/gemini-tutorials/dominant.ped > dominant.ped | |
gemini load --cores 2 \ | |
-v trio.trim.vep.vcf.gz \ | |
-t VEP \ |
View genome.txt
chr1 10 |
View rest-example.md
Load a GEMINI database from a VCF
$ gemini load -v nobel.vcf -t VEP --cores 23 -p samples.ped nobel.db
Launch the GEMINI web server
(this will run on your local machine on port 8088)
$ gemini browser nobel.db
View main-pipeline.sh
############################################################ | |
# Index the position-sorted BAM files. | |
############################################################ | |
export SAMPLES="T10AA T10AB T10D T10H" | |
export TUMHOME=/home/arq5x/cphg-home/projects/navin-tumor-heterogeneity/ | |
export STEPNAME="bam-index" | |
for sample in `echo $SAMPLES` | |
do | |
export QSUB="qsub -q cphg -W group_list=CPHG -V -l select=1:mem=2000m:ncpus=1 -N $STEPNAME -m bea -M arq5x@virginia.edu" | |
echo "cd $TUMHOME; samtools index bam/$sample.*.bam" | $QSUB |
View pos_to_bedgraph.py
import sys | |
class Line(object): | |
def __init__(self, line): | |
self.fields = line.split('\t') | |
self.chrom = self.fields[0] | |
self.start = int(self.fields[1]) | |
self.end = int(self.fields[2]) | |
self.depth = int(self.fields[3]) |
View dbsnp-to-bed.sh
export GENOME=hg19 | |
export SNPBUILD=131 | |
curl -s http://hgdownload.cse.ucsc.edu/goldenPath/$GENOME/database/snp$SNPBUILD.txt.gz | \ | |
zcat | \ | |
cut -f 2,3,4,5,6,7,10,16 > dbsnp.$SNPBUILD.$GENOME.bed | |
head dbsnp.$SNPBUILD.$GENOME.bed | |
chr1 10433 10433 rs56289060 0 + -/C near-gene-5 | |
chr1 10491 10492 rs55998931 0 + C/T near-gene-5 | |
chr1 10518 10519 rs62636508 0 + C/G near-gene-5 |
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