- Deanna's biostars post
- MAPT alt locus
- MAPT under selection in Eurpeans
- Zody/Eichler MAPT Inversion toggling
- The MAPT locus—a genetic paradigm in disease susceptibility
- Case study for reporting variants in the VCF format.
- http://content.csbs.utah.edu/~rogers/ant6299/readings/Hardy-BST-33-582.pdf
- Kitzman/Eichler show that sample NA10847 is heterozygous H1/H2 http://www.nature.com.proxy.its.virginia.edu/nbt/journal/v29/n1/extref/nbt.1740-S1.pdf
- Terminology
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#!/usr/bibn/env python | |
print "hi" |
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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]) |
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# compute a BEDGRAPH RNA-seq coverage across the entire genome for each sample: | |
bedtools genomecov -bga -split -ibam sample1.sorted.bam > 1.bg | |
bedtools genomecov -bga -split -ibam sample1.sorted.bam > 2.bg | |
bedtools genomecov -bga -split -ibam sample1.sorted.bam > 3.bg | |
# compute the mean coverage at each interval. | |
bedtools unionbedg -i 1.bg 2.bg 3.bg \ | |
| awk '{sum=0; for (col=4; col<=NF; col++) sum += $col; print $0"\t"sum/(NF-4+1); }' | |
chr1 900 1000 0 60 0 20 |
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# assumes that the BEDGRAPH is the output of the bedtools genomecov tool using the -bga option. | |
$ cat foo.bedg | |
chr1 0 10 5 | |
chr1 10 20 5 | |
chr1 20 30 10 | |
chr1 30 40 11 | |
chr1 40 50 9 | |
chr1 50 60 10 | |
chr1 60 70 11 | |
chr1 70 80 15 |
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# test each database file individually | |
time bedtools intersect -wa -wb -sorted \ | |
-a hg19.rmsk.bed.gz \ | |
-b hg19.segdup.bed.gz \ | |
> /dev/null | |
real 0m5.069s | |
user 0m5.007s | |
sys 0m0.056s | |
time bedtools intersect -wa -wb -sorted \ |
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# 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 \ |
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DIR=bam/t1d-run2a-redo/ | |
# line 10: run flagstats on marked dup BAM | |
# line 11: grab the number of duplcates line and the total reads line | |
# line 12 grab the total and dup total | |
# line 13: place the total followed by duplicate count on same line | |
# line 14: print the duplicate fraction | |
for file in `ls $DIR/*.bwamem.sort.dedup.bam`; | |
do | |
samtools flagstat $file | \ |
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# update things | |
sudo apt-get update | |
# get postgres up and running | |
sudo apt-get install postgresql-9.3 | |
sudo apt-get install postgresql-server-dev-9.3 | |
sudo apt-get install postgresql-client | |
sudo apt-get install postgresql postgresql-contrib | |
sudo -u postgres psql postgres | |
\password postgres |
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attributes: | |
name: cpg | |
version: 0.1 | |
recipe: | |
full: | |
recipe_type: bash | |
recipe_cmds: | |
- > | |
mysql --user=genome --host=genome-mysql.cse.ucsc.edu \ |