Scientists today released the first human ‘pangenome’, which contains the most complete set of genes in the human species to date, in hopes that it will help explain a host of diseases.
The initial version of the ‘pangenome’, described in a series of articles in the scientific journal Nature, compiles the genomes (all genetic information) of 47 people from Africa (more than half), the Americas (one-third), Asia (six people) and in Europe ( Ashkenazi Jew). Oceania is not represented.
The consortium of scientists involved in the work — the Human Pangenome Reference Consortium — expects to have collected, by the middle of next year, the genomes of 350 people.
The first human genome was sequenced in 2003 and served as a reference for other human genomes that were subsequently published.
In March 2022, scientists published the first effective complete human genome sequence thanks to new technologies that have made it possible to fill in the gaps left by a study that announced the first complete human genome 20 years ago.
The human genome consists of just over six billion letters of DNA spread over 23 pairs of chromosomes (organized cellular structures that contain genes, responsible for encoding genetic information). In each of these pairs of chromosomes, one chromosome comes from the father and the other from the mother.
The first sequence of the human genome made it possible to identify the genes responsible for specific diseases, start research in more personalized medicine and elucidate the mechanism of human evolution.
However, they do not reflect human diversity, since more than 70% of the genome sequences were from one individual – he responded to a Buffalo newspaper advertisement in 1997 – and the remaining 20 are mostly white and European.
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