RS numbers and "novelty"
Entering edit mode
11 weeks ago
Nosey • 0

This is a general question. My concern is that because variants had RS numbers, knowledge is already known.

I obtained many variants by searching within genes on biomaRt. These variants had respective RS numbers. In my analysis, these variants were submitted to a chip, and genotypes returned.

I am looking for missing homozygosity and some results look interesting.

My concern is that because these variants already had RS numbers, knowledge is already known however in ensembl the info is limited. The genomic context for these variants on ensembl shows WGS studies.

The reasons these variants were selected from the bulk of variants was on the SIFT score.

Would this be typical, to already have RS numbers for potentially 'novel' variants of interest? I worry that I am simply re-running analysis, however a literature search reveals no additional information on these regions.

biomaRt WGS ensembl SNP • 171 views
Entering edit mode
11 weeks ago

rsIDs mean that a variant has already been observed. If you look them up on dbSNP you can find information about the submitters. If they have come from a large-scale variant study, like 1000 Genomes or gnomAD, there would be no papers specifically mentioning them, just talking about the study overall.


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