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jwong8314/ipeer-ibd-lowpass
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Justin Wong Itsik Pe'er Lab GOAL: To check robustness of pipeline on a downsampled low coverage data set DATA: from TAGC dataset, contains BAM files for roughly 15 samples -- have a vcf for whole TAGC -- have bamfiles for 15 samples: in scratch/*/data NOTE: have already extracted 22nd chromosome SCRIPTS: extract.sh -- splits off 22nd chromosome master.sh -- takes a bgzip file and runs finds IBD segments - generate .tbi - extracts a chromosome - drop multiallelic - call eagle to phase - remove low frequency SNPs with filter.py - call beagle to call ibd downsample.cpp -- program downsamples a given sam file - NOTE: original file accidentially deleted so was rewritten thus this version may not be completely debugged and never used on real SAM - count number of bases - uniformly sample the reads by proper fraction to obtain desired coverage testGATK.sh -- runs HaplotypeCaller on sorted bam - sorts - call HaplotypeCaller both 1.0 and 0.1 sampling - removes multiallelic filter.py - written by Ryan Bernstein - takes vcf.gz and drops low frequency SNPs - outputs to STDOUT a vcf NOTE: multialleic sites were dropped as that they usually imply poor read quality.
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