Two decades of efforts pay off

64 full human genomes sequenced at high-resolution

This reference data includes individuals from all over the world to better capture the genetic diversity of the human species.

Two decades after the successful completion of the Human Genome Project, an international group of researchers has now sequenced 64 human genomes at high resolution. This reference data includes individuals from all over the world to better capture the genetic diversity of the human species.

Among other applications, the work, published in the journal Science, enables population-specific studies on genetic predispositions to human diseases as well as the discovery of more complex forms of genetic variation. In 2001, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. The Human Genome Project, as it was called, had taken more than 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 composite of humans, and that approach could not accurately capture the complexity of human genetic variation. Researchers published the new, considerably more comprehensive reference dataset obtained using a combination of advanced sequencing and mapping technologies.

The new reference dataset reflects 64 assembled human genomes, representing 25 different human populations from across the globe. Importantly, each of the genomes was assembled without guidance from the first human genome and as a result better captures genetic differences from different human populations, said the study.

The study was led by scientists from the European

Molecular Biology Laboratory Heidelberg (EMBL), the Heinrich Heine University Dusseldorf (HHU) in Germany, The Jackson Laboratory for Genomic Medicine in Farmington, Connecticut (JAX), and the University of Washington in Seattle (UW).

"With these new reference data, genetic differences can be studied with unprecedented accuracy against the background of global genetic variation, which facilitates the biomedical evaluation of genetic variants carried by an individual," said co-first author of the study, Peter Ebert from the Institute of Medical Biometry and Bioinformatics at HHU.