Wednesday, March 14, 2012

Aligner and Genotyper

Recently I ran into a problem:

By viewing the alignment BAM file in IGV, we can observe a significant SNP at a position. All reads that mapped to that regions shows this single mutation. 

However, with GATK's UnifiedGenotyper, this SNP has a very low QUAL value (QUAL=7).

Not sure what caused this confusion, so at now I am trying to use two mapping applications novoalign and BWA  as aligner, and two genotyper application UnifiedGenotyper and samtool/mpileup to call variances.





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