Create a gold standard

Question

[deniselavezzari]

Any suggestion to create a gold standard for an individual using all exomes/genome sequencing available?

[ATpoint]

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Answer 1

[Istvan Albert]

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.

• https://genomebiology.biomedcentral.com/articles/10.1186/s13059-019-1774-4

[deniselavezzari]

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