RNA-Seq quantification of a heterozygous individual with a short deletion
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2.8 years ago
elsoja ▴ 150

I'm quantifying transcript expression of RNA-Seq data collected from a mouse that is heterozygous in a given locus. One of the alleles is wild-type while the other has a deletion (~20bp). Should I take any special care when quantifying those samples or can I use Salmon/Kallisto/RSEM with a standard GENCODE reference?

Thanks

RNA-Seq • 531 views
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2.8 years ago
Lior Pachter ▴ 610

You should modify your transcriptome to include both haplotypes for the gene.

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Thank you, Lior!

That's what I'm doing right now. I was apprehensive in introducing more ambiguity into a locus in which the individual isoform expression is a relevant information. However, it seems like the EM gave me results that are very close to what I was expecting.

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