Skip to content
/ nipt Public

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

License

Notifications You must be signed in to change notification settings

N-damo/nipt

Folders and files

NameName
Last commit message
Last commit date

Latest commit

 

History

4 Commits
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Repository files navigation

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.

Resources

License

Stars

Watchers

Forks

Releases

No releases published

Packages

No packages published