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emcq | 5 years ago

Shockingly the human genome itself has not been fully sequenced, despite the human genome project completing years ago [0]. There are difficult to map regions of the genome, some of which are interesting. Only recent advances in long read sequencers have helped to solve some of these issues [1].

For the future to truly be amazing with one sequencing the lab prep, chemistry, and equipment required needs to advance. Oxford Nanopore has some advancements here [2] but it's still a ways to go before you could have a sample prepared as easily as an ultrasound or x-ray.

[0] https://www.statnews.com/2017/06/20/human-genome-not-fully-s... [1] https://www.ecseq.com/support/ngs/are-there-regions-in-the-g... [2] http://nanoporetech.com/products/voltrax

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aroch|5 years ago

The Telomere-to-Telomere consortium has made fantastic progress on this in the last year or two: https://genomeinformatics.github.io/CHM13v1/

Thanks to them we now have a nearly completed genome, only missing the deconvoluted rDNA array segments (~12mb or so, we know the sequences since they’re basically identical but no one has accurately placed the individual array variants yet).

wolfretcrap|5 years ago

I wonder what if genes are only like "functions" and inputs still come from environment. This makes it easy to not change that function often as the output changes based on input received from the environment. While only in very rare cases the function itself needs to be modified or simply put inside another function to give the function inside access to more environmental inputs.