Any suggestion to create a gold standard for an individual using all exomes/genome sequencing available?
Any suggestion to create a gold standard for an individual using all exomes/genome sequencing available?
Here is a relevant publication: Is it time to change the reference genome?
In a nutshell, my takeaway is that "gold standard" is not the right nomenclature. We should be thinking about a consensus sequence where every base is a major allele.
This article is very interesting, but what I would like to do is to create a Vcf gold standard from the same individual for which I have the genome and many exomes done with different kit and platform. I want to create it in order to use it for variant calling software comparison. Is there any article for that? Thank you
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