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/

Very cool, thanks for the resource. I see I can upload my own data there too. Probably a more useful place for it than GitHub!

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 chrom-pos-ref-alt (CPRA). * Variant key (Nicola Asuni)

As dasmoth says, there is no fixed coding sequence for a gene or location in the genome.

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 Big Data Institute.

Both Gil and Peter have done some incredible things in this space, but the language of scientists can be difficult to understand by a lay audience.

Thanks, Terry.

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

There are a lot of caveats in representing a genome as some point diffs from a reference. I worry that your description might promote a way of thinking about genomes that ignores the more complex things that can and do happen.