Researchers have now sequenced 64 human genomes at high resolution in a new study.
This reference data includes individuals from around the world to better capture the genetic diversity of the human species.
Among other applications, the Human Genome Project, published in the journal Science, allows population-specific studies of genetic predispositions to human diseases as well as the discovery of more complex forms of human genome. genetic variation.
In 2001, the International Consortium for Human Genome Classification announced the first version of the human genome reference series.
The Human Genome Project, as it was called, had taken over 11 years of work and involved more than 1,000 scientists from 40 countries.
This reference, however, did not represent a single individual but instead was a mixture of people, and that approach could not properly capture the complexity of human genetic variation.
Researchers published the new, much more complete reference database, obtained using a combination of advanced tracking and mapping technologies.
The new reference database features 64 collected human genomes, representing 25 different humans from around the globe.
Importantly, each of the genomes was collected without guidance from the first human genome and as a result it is better to capture genetic differences from different human groups, the study said.
The study was led by scientists from the Heidelberg European Molecular Biology Laboratory (EMBL), Heinrich Heine Dusseldorf University (HHU) in Germany, Jackson Laboratory for Genomic Medicine in Farmington, Connecticut (JAX), and the University of Washington in Seattle (UW).
“With this new reference data, genetic differences can be studied with unprecedented accuracy against the backdrop of global genetic change, enabling biochemical assessment of genetic variations carried by an individual, “said study co – author Peter Ebert of the Institute. of Medical Biometry and Bioinformatics at HHU.
The distribution of genetic differences can vary widely between population groups due to spontaneous and persistent changes occurring in the genetic material.
If such a movement passes over multiple generations, it can be a genetic difference that is unique to that population.
The new reference data provide an important basis for incorporating the full spectrum of genetic differences in genome-wide association studies.
The goal is to estimate the individual risk of developing certain diseases such as cancer and gain an understanding of the molecular mechanisms involved, the study said.
This, in turn, can be used as the basis for more targeted and preventive therapies.
Thus, this work could lead to further applications in precision therapy.
Drug efficacy, for example, can vary between individuals based on their genomes. The new reference data now represent the full range of genetic variants and include human genomes with great diversity.
Thus, this new facility could contribute to the development of modern approaches in personalized medicine, where the choice of treatments is tailored to the individual genetic background of the patient.
This study builds on a new method published by these researchers last year in Natural Biotechnology to properly reconstruct both parts of a person’s genome – one obtained from a human father, one from a person’s mother.
When collecting a person’s genome, this method eliminates the biases that may result from comparisons with an incomplete reference genome.