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working with hg38 #9

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rajithadp opened this issue Nov 21, 2024 · 1 comment
Open

working with hg38 #9

rajithadp opened this issue Nov 21, 2024 · 1 comment

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@rajithadp
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I'm trying to analyze my nanopore data, generated using the hg38 reference sequence. Can you please include instructions on how to run infoGenomeR with the hg38 setup? As far as I understand, it runs with hg19 by default.

@yhunlee
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yhunlee commented Nov 30, 2024

I'm working on the hg38 automation. Just need to include bwa indices and mappability files.

For nanopore data, I haven't run it standalone.
The way that I have been used long reads is,

  1. Start from a short-read fastq/bam. CNA/SNP/SVs are called based on it.
  2. Feed nanopore SV calls into the pipeline, additionally (--additional-sv option should be introduced soon).

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