Reacción a "A rereading of the human genome expands the catalogue of genetic variations"

These two articles address some of the main questions yet to be resolved in decoding the human genome sequence. On one hand, most of the available genetic information comes from the genome of individuals with European ancestry, with very limited representation of other human populations. On the other hand, large-scale sequencing based on short reads left regions uncovered or without precise sequence data due to the high number of repetitive sequences in our genome. It's as if some parts of the genome could be examined through high-precision lenses, while others had to be viewed through thick, distorted, and blurry glass.

Using long-read sequencing technologies, the researchers in these two studies applied complementary strategies to analyze the human genome—either sequencing the genomes of over 1,000 individuals from 26 different populations, but with relatively low depth, or deeply sequencing the genomes of 65 individuals from 28 populations. The results reveal that our genome is highly dynamic, with a great deal of structural variation previously unknown—particularly in regions with many repeats, where transposable elements move and jump, and where centromeres (sequences that define the uniqueness of chromosomes) evolve rapidly. Other notable findings include a more accurate definition of Y chromosome variation across human populations, improved resolution of gene regions involved in human diseases, and the high structural variability in chromosome regions crucial to our immune system, such as the genes in the major histocompatibility complex.

Greater knowledge of the structure, variability, and dynamics of our genome across different human populations will allow us to better understand our evolution and adaptation to diverse environments. It represents a shift from a rough map of our genome—focused on major cities and towns—to a much finer-scale view, complete with isolated houses, rivers, and mountains.