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Picard 2.10.4 has MAJOR CHANGES that impact throughput of pipelines. Default compression is now 1 instead of 5, and Picard now handles compressed data with the Intel Deflator/Inflator instead of JDK.
GATK version 4.beta.2 (i.e. the second beta release) is out. See the GATK4 BETA page for download and details.

# very different SNP calling by GATK and samtools

Member
edited February 2013

Hi,
I am estimating SNP number for a genome of a speceis.

1. After mapping the illumina reads to a reference seqence (of a related species), I used picard to remove duplicates and used samtools (mpileup) to convert the bam file to a fastq file.
2. I also use GATK to do local reglimant and recalication from the mappnig bam file. Then I used samtools (mpileup) to convert the bam files output by GATK to a fastq file.

I found that the number of SNP in the fastq going through GATK is 10 times more than the first fastq.
Interestingly, if I use picard to do duplicats-removomg again to the GATK bam and used samtools to convert the bam to fastq file. The SNP jumps back to 10 time fewer.

What can be the reason that the SNP number can be 10 time different between the two methods?
Actually, I expect the GATK output file has fewer SNP given the effect of recaliraiton or relingement. But the result is opposite.

Chih-Ming

Post edited by Geraldine_VdAuwera on
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