IndelRealign mitochondrial DNA using b37
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Entering edit mode
7.0 years ago
Cindy ▴ 60

I want to run GATK IndelRealigner for mtDNA and use b37 indel reference as known sites. Here is my script. I got error for incompatible contigs. The NC_012920.1.fasta is mitochondria reference genome and includes only M contigs. How can I modify it to make it compatible to b37 indel reference genome? Thanks!

java  -jar GenomeAnalysisTK.jar \
         -R NC_012920.1.fasta \
     -T IndelRealigner \
     -targetIntervals file_GATKrealign.intervals \
     -I file \
      -o file_realn.bam \
      -known b37/1000G_phase1.indels.b37.vcf \
     -known b37/Mills_and_1000G_gold_standard.indels.b37.vcf

##### ERROR MESSAGE: Input files b37/1000G_phase1.indels.b37.vcf and reference have incompatible contigs. Please see https://software.broadinstitute.org/gatk/documentation/article?id=63for more information. Error details: No overlapping contigs found.
##### ERROR   b37/1000G_phase1.indels.b37.vcf contigs = [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, X]
##### ERROR   reference contigs = [M]
alignment • 1.8k views
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Entering edit mode
7.0 years ago

The problem is likely naming related (M vs MT) but the bigger issue is that this GATK realignment approach is really overkill for mitochondria sequences. You could easily do a real alignment using BLAST or something else more sensitive. There are no mitochondrial gold standard indels in your references anyway.

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