More than 20 years ago, the human genome was first sequenced. While the first version was full of 'holes' representing missing DNA sequences, the genome has been gradually improved in successive rounds. Each has increased the quality of the genome and, in so doing, resolved most of the blank spaces that prevented us from having a complete reading of our genetic material.
, which would now have 3.23 billion letters. The new reference genome, called T2T-CHM13+Y, has been made available to the entire research community by the authors of the study.on the sequences of 43 Y chromosomes derived from humans who lived over the last 183,000 years. Their analysis reveals great diversity in both the size and structure of this Y chromosome over the course of evolution.
That we know more about the Y chromosome is great news. Just about a year ago we saw another scientific breakthrough correlating the common loss of the Y chromosome in many cells with a shorter life expectancy for men compared to women. And it is clear that much more valuable information is hidden in theThese two new studies significantly increase our knowledge of human DNA, resolving what we have yet to discover about the smallest but most complex chromosome in our genome.
With the pangenome initiative, we will no longer have a single reference genome, but hundreds that will more reliably illustrate our genetic similarities and differences. Among other things, this should help us more easily detect gene mutations associated with the thousands of congenital diseases.
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