The idea that one could look at a person's genome and make realistic predictions about their health prospects and the likelihood any of a vast array of different diseases was really sold in the early days of genome sequencing, but I always scoffed at the idea.
Well the SNP-based version has not worked out. But I'm guessing the full-sequence version has a better shot in a decade or two. Commonalities between identical twins raised apart of course provide the limit to which this project could ultimately succeed.
One needs a secondary terminology to describe the effect on protein function or activity.
One such terminology you find in the literature is non- synonymous and synonymous: nsSNP is a genetic code change that results in a different amino acid vs. sSNP where it doesn't alter the amino acid residue sequence.
…there were some really wild statements about predictive powers that are obviously not coming true.
When reading your post, I thought of Kari Stefansson, founder of DeCode Genetics. Had Stefansson’s hypothesis about the common diseases of man been well founded, DeCode probably wouldn’t have gone bankrupt after burning through hundreds of millions of dollars.