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Now on to the more important challenge. Making our understanding of the human genome more diverse and less specific to certain geographic areas. This is already
by jghn 5y ago
Now on to the more important challenge. Making our understanding of the human genome more diverse and less specific to certain geographic areas. This is already having an impact in studies, drug development, etc based on genomics.
Investing in organizations such as H3Africa will be important.
- jahewson 5y agoI don’t think it’s “more important”, without a reference genome it’s impossible to take the next step and the Human Genome Project successfully took us from 0 to 1. Going from 1 to n is much easier. The Human Pangenome Project is working on this and should have 350 diverse genomes sequenced within the next couple of years. Note that this has nothing to do with collecting variations in individual genes - that’s easy and widely available. But about collecting variations in the actual content and structure of the genome. e.g. Some populations have a bunch of extra DNA that most other humans lack, amazing.
- asdff 5y agoOne of the issues is in terms of sample size. African populations are the most genetically diverse, so you would need a much larger sample to draw the same power you get from a less diverse population of say icelanders (1), who are even less genetically diverse than western europeans. Another favorite population for geneticists for similar reasons is a group of mormons from utah. 1. https://en.wikipedia.org/wiki/DeCODE_genetics https://en.wikipedia.org/wiki/DeCODE_genetics
- jghn 5y agoYes. Which is better or worse depends on the use case. The bias in available samples causes bias in things like medical treatments.
- deleted 5y ago[deleted]