I would add polymorphisms and regulatory regions to that :)
Here is kind of a fun question: (mods feel free to move this post if you feel it doesn't belong here)
Let's say there are technologies available to fully sequence genomes/transcriptomes/whatever with extremely high accuracy and completeness. You are given enough resources to do whatever you want (within reason), what would be your dream experiment/project?
4 answers
Measure the expression level of every gene in every tissue in every individual for their entire lifetime.
The same as now but with the 3 "R" rule: Replicates, Replicates and Replicates!!
++++1
This is so true, and yet so quickly forgotten when planning an experience... ;-)
I would take a small island of some sort--probably with a lighthouse--and sample everything I could. Tide pools, soil, every plant, every animal, every lichen, every mold, anything I could grab a sample. And catalog the whole thing.
Of course, I'd have to live on the island.
Directly mapping human genetic diseases by inbreeding and outcrossing. - no ethical considerations.
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