Splice prediction from bam files
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7.3 years ago
vigprasud ▴ 60

Are there any command line tools that specialize in predicting splice site variants from bams?

splicesite wes • 1.8k views
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From DNA-Seq, or RNA-Seq?

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DNA-seq bams

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7.3 years ago

You would first have to do variant calling, e.g. using GATK HaploTypeCaller. Then you need to annotate the obtained variants, e.g. using snpEff, VEP or Annovar to discover the expected consequence of a variant.

I'm not aware of a more specific tool, but knowing the myriad of tools available it probably does exist.

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