Closed amrita1983 closed 4 years ago
Hi @amrita1983 , RepeatHMM is not designed to work on paired end reads. you can add --GapCorrection 0 --FlankLength 15 --MinSup 3 --SplitAndReAlign 0
with a bam so that RepeatHMM might output some repeats, but paired end information is not used and each read is considered separately.
Thank you for the reply, but still the tool is not able to detect any repeat expansion from the BAM file using the options that you have mentioned. I will try using fastq file once.
If you want, could you please get a bam for a specific repeat region and the repeat region information and the bam file to me for testing? Thank you.
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Hi,
I am trying to find out HTT repeats in known sample, but when I am using the bam file generated using BWA local mode, it is not showing any repeat at all. I am very surprised with the output. I thought of using the fastq file directly, but did not find out how to use paired end illumina WGS data for it. Command: python2 repeatHMM.py BAMinput --Onebamfile HD_aligned.sorted.bam --hg hg19 --hgfile /home/ngs/Downloads/RepeatHMM/bin/ref/hg/hg19.fa --repeatName all
It is extremely urgent to get the result for me as I have a conference next week it would be great if you can help me.