4 ms·
The genome is akin to the software of an organism. It's not exactly obfuscated, so we can actually learn a lot just by reading it. The next big benefits are all
by eggie 8y ago
The genome is akin to the software of an organism. It's not exactly obfuscated, so we can actually learn a lot just by reading it. The next big benefits are all about relating the genome of one organism to others.
A single "reference" genome can serve as a high quality basis for interpreting new genomes. This is called resequencing. Small pieces of the new genomes are sequenced with very cheap techniques and mapped into the most-similar bits of the big genome, in effect allowing for a kind of guided reconstruction of the new genome. The short read lengths make it difficult to reconstruct a new genome de novo, but that's OK because if we have a reference we've already paid that price once for a related individual.
This process has bias but it's also expedient, say when you have thousands or millions of genomes in a study (as happens in agriculture).
One big problem in the field now is this obsession with reference genomes and resequencing against them. Researchers forget how much the reference genome can bias their resolution of a new genome. This has resulted in a lot of fussing and fixation on high-entropy regions of genomes and small variations (point mutations, or SNPs) within them. There is a growing body of evidence that suggests that large changes are probably more important for adaptation, but they remain somewhat underappreciated because of this short read resequencing modality.