Scientists on Thursday released the first human ‘pangenome’, which contains the most complete range of genes in the human species to date, in the hope that it could help explain a range of diseases.
The preliminary version of the ‘pangenome’, described in a series of articles in scientific journal Natureadd the genomes (all genetic information) of 47 people from Africa (more than half), in the Americas (one third), in asia (six people) e na Europa (an Ashkenazi Jew). Oceania is not represented.
The consortium of scientists involved in the work – Human Pangenome Reference Consortium – hopes to bring together, by the middle of next year, the genomes of 350 people.
A first human genome was sequeled in 2003 and served as a reference for other human genomes that were published later.
In March 2022, scientists published the first effectively complete sequence of the human genome thanks to new technologies that made it possible to fill in the gaps left 20 years ago by a study that announced the first complete human genome.
The human genome is composed of just over six billion DNA letters spread over 23 pairs of chromosomes (organized structures of cells 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 sequenced human genome allowed identify genes responsible for specific diseasesinitiate research into more personalized medicine, and clarify the mechanism of human evolution.
However, it did not reflect human diversity, since more than 70% of genomic sequences were from a single person – who responded to a newspaper ad in the US city of Buffalo in 1997 – and the remaining 20 people, mostly white and European.
2023-05-11 08:13:24
#human #pangenome #revealed
