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TsiOne

Description

Three paired chromosomes(chr13,chr18,chr21) were constructed for comparison reference. After GC and mappability correction by LOESS,each bin's read counts was corrected.Then,wilcox rank test was performed to test the significant difference between each pairs.

Usage

python nipt.py -bin 50000 -b *bam -c hg38.chroms.size -m k100.umap.bedgraph -g loess.R -w wilcox.R
"k100.umap.bedgraph" can be downloaded from the website(https://bismap.hoffmanlab.org/raw/hg38/k100.umap.bedgraph.gz)

Install

git clone https://github.com/N-damo/nipt.git

About

trisomy of chr13,chr18,chr21 detection within sample,without normal sample as control.

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