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  • Data issues...

    Hi all,

    I am working with some exome sequencing data. I have done the mapping, pileup, filtering and variant calling. After all that... my data look weird, I am getting A LOT of homozygous calls and when annotating most of them are not in dbSNP. These things make me suspicious about my data. Also, I checked a few of the heterozygous SNPs and 1/10 was actually heterozygous.
    Does anyone have any idea of what might be wrong with my data??? Is there a way to check if the sequencing actually worked, besides relying on the Phred-like scores???

    Thank you!

  • #2
    One sanity check is to see what % of your reads mapped to the genome. If that is very low (like less than 10%), something could be wrong.
    SpliceMap: De novo detection of splice junctions from RNA-seq
    Download SpliceMap Comment here

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