demonstration or vision of the genotyping2sequencing development

Question

[J.F.Jiang]

Hi all,

I am preparing a slide to demonstrate the history from genotyping to sequencing.

As far as I know, genotyping platforms offer us a quick way to obtain the genotypes of those specific sites (SNPs or indels or ...). GWAS, as a milestone of the genotyping, provided us a global view of the tag SNPs in human genome, though it is time and money consuming.

As the incoming of sequencing platforms, we could obtain both know SNPs and de novo variants from WGS, WES, or target sequencing.

I want to demonstrate such a history in a picture, is there anyone has seen such before?

Maybe I can borrow some ideas from them to build my own.

Best

Answer 1

[SNPsaurus]

I've shown an image that builds off of images used to illustrate the tag SNPs assayed by fixed-content genotyping platforms. Imagine you are looking for the cause of a rare Mendelian disease. It could be a variant right next to a tag SNP and you would never see it on the chip, but would with sequencing.