andy-thomason
Joined 8 years ago
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Comment · 7 years ago
Comment · 7 years 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 (Nicola Asuni)
As dasmoth says, there is no fixed coding sequence for a gene or location in the genome.
Comment · 7 years 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 have done some incredible things in this space, but the language of scientists can be difficult to understand by a lay audience.
Comment · 7 years ago
Thanks, Terry.
I hope it was useful. It is just an introductory jargon-free guide. You can find more on Ensembl and Wikipedia.
You may (at your own risk) take a look at
https://opensnp.org/