andy-thomason

7 ms·

1. 1.▲
   by andy-thomason 7y ago

   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/
2. 2.▲
   by andy-thomason 7y ago

   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
3. 3.▲
   by andy-thomason 7y ago

   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 hav
4. 4.▲
   by andy-thomason 7y ago

   Thanks, Terry. I hope it was useful. It is just an introductory jargon-free guide. You can find more on Ensembl and Wikipedia.
5. 5.▲
   Genomics – A programmer’s guide(gist.github.com)

   274 points by andy-thomason 7y ago|51 comments