Viewing profile — andy-thomason

For academic use, UK Biobank, 1000 Genomes and other resources offer variants for large groups, my wife included. You may (at your own risk) take a look at https://opensnp.org/

How to represent variants is a whole can of worms. There are a number of competing systems. * RSIDs (from DBsnp https://www.ncbi.nlm.nih.gov/snp/ ) * HGVS as mentioned. * Ensembl c…

Yes, this is a deep subject and "Genetics" is indeed the correct term. Our company is called "Genomics" because of the origins of the founders in the Oxford stats department and Bi…

Thanks, Terry. I hope it was useful. It is just an introductory jargon-free guide. You can find more on Ensembl and Wikipedia.