Hi Dear colleagues
I've got a FASTQ file that is produced using Thermofisher Ion S5 machine, I want to analyze this raw data using NIPTMer software:
Main article: Article NIPTmer: Rapid k-mer-based software package for detection of...
Download link: http://bioinfo.ut.ee/NIPTMer/programs/
Help: http://bioinfo.ut.ee/NIPTMer/readme.txt
This software package has a directory named "list" that the files in the dir are named look like this pattern: "CHID_cleaned_25.list" which CHID is chromosome ID.
For analyzing the raw data this app has three steps:
A. Create reference kmer lists (to be run once before analysis)
B. Create control dataset
C. Analyze samples
The problem is here, should I do the first step again? because we have the data directory, and in step B we need FASTQ file.
I just want to make a k-mer list using raw FASTQ data file that belongs to the patients, using glistmaker and then calculate k-mer counts using make_table.pl script. And finally analyze them using ZandMah python script.
Would you please help me with the corrent work flow of this software?