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modified: README.md
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	renamed:    cre.roh.sh -> cre.roh.h3m2.sh
	renamed:    cre.get_hom_stretch.sh -> cre.roh.naive.sh
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naumenko-sa committed Mar 5, 2019
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Expand Up @@ -155,13 +155,16 @@ vcf.platypus.getNV.sh ${family}-platypus-annotated-decomposed.vcf.gz
* cre.coverage.bamstats05.sh - calculate coverage
* cre.fixit.sh - fixes sample names
* cre.gemini_load.sh loads vep-annotated vcf to gemini db.
* cre.get_hom_stretch.sh retrieves MAF<5% high quality variants from gemini.db and reports stretches of >9 HOM variants.
* cre.gnomad_scores.R - download and parse gnomad scores.
* cre.immunopanels.R - annotates CRE report with 6 immunopanels.
* cre.kinship.R - to plot relatedness (kinship) diagram for a group of samples. Sometimes helps to detect and solve mislabelling.
* cre.package.sh
* cre.rtg.validate.sh - validates NA12878 calls vs genome in a bottle callset with RTG and a bed file
* cre.sh - master script to produce variant reports from bcbio output
* cre.topmed.R - pull variant frequency from TopMed having rs_id
* cre.roh.h3m2.sh: a robust method of ROH/LOH analysis with h3m2, calls variants, accounts for exonic regions, LD, plots picture.
* cre.roh.naive.sh: retrieves MAF<5% high quality variants from gemini.db and reports stretches of >9 HOM variants.
* cre.vcf.has2dp.sh fixes input vcf file from HAS pipeline (Illumina, TCAG) filling DP field
* omim.sh
* orphanet.sh
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