we have a microarray assay with about 600 thousands markers. Illumina Infinium globalscreening-24v3.0 Bead Chip (48 samples) array. The results are like this "rs364728", how to transform the rs numbers of such a hughe package into concrete gene mutations ? Is there also possibility to add health conditions to concrete mutations ? Do you have any experience with this assay ? Thank you Dana Pokorna
You can always refer Illumina's Annotation file (https://sapac.support.illumina.com/content/dam/illumina-support/documents/downloads/productfiles/global-screening-array-24/v3-0/infinium-global-screening-array-24-v3-0-a1-annotated.zip ),
There you will find the list of all the rsIDs and their short details such as position GENE name mutation etc.
And to add health conditions to concrete mutations, you can always search these rsID on GWAS (https://www.ebi.ac.uk/gwas/) there you can get the information on associated disease to those mutations/rsIDs.
these rsIDs will act as a key to annotation. You can refer any variant database with diffrent categories (dbSNP, ClinVar, Varsome) and search these Ids.
O.K. Thank you very much, but is there also any analyzer, saying something like: This person is CYP1A2 pure metabolizer, or this person has lactose intolerance ? I need to transform gene mutations into clinically relevant data.
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