The Story:
Scientists as of this year have finally mapped the whole of the human genome, that is, the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei. We now as a species know ourselves in a way that we never have before.
Significance:
In 2021, scientists reported sequencing the complete “female” genome; that is, the human genome without the Y chromosome found only in men. In early 2022 the mapping of the Y chromosome was also completed.
The Human Genome Project was initiated in 1990 with precisely this goal. It was hoped that it would allow researchers to identify the mutations linked to specific forms of cancer, to better design medicines with a foreknowledge of their likely effects, to advance the forensic applied sciences, and that it would have myriad other applications. These have in fact all become manifest as the project has progressed.
Strange New Worlds:
Part of the significance of the conclusion of this effort is that we now have a precise metric of species differences on the one hand, and of intra-species differences on the other. The differences in genetic code from one human to another are only 0.1% as measured by single-nucleotide variants. The differences between the human code and the code of the closest living cousins of our species, bonobos and chimpanzees, are roughly 1.1% if measured in the same way.
