Largest catalogue of human genomic variation published

An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalogue of genomic differences among humans.

The catalogue is reported in two papers in the journal Nature. These mark the completion of the project, in which researchers have sequenced the genomes of 2504 people from 26 different populations across Africa, East and South Asia, Europe and the Americas.

'The 1000 Genomes Project data are a resource for any study in which scientists are looking for genomic contributions to disease,' said Dr Lisa Brooks, Programme Director at the National Human Genome Research Institute in Bethesda, Maryland.

Most differences between people's genomes — so-called variants — are neutral. However, they can also be either beneficial or cause increased susceptibility to diseases such as cancer, diabetes and heart conditions. Understanding how genomic variants contribute to such diseases could help researchers develop improved diagnostics and treatments.

In these papers, researchers catalogued over 88 million variants between individuals. Most of these (84.7 million) were variants in a single letter of the DNA sequence, but around 69,000 were structural variants — deletions or rearrangements of larger sequences of DNA — many of which affected genes.

'The 1000 Genomes Project has laid the foundation for others to answer really interesting questions,' said Dr Adam Auton, senior author on the main study and former assistant professor of genetics at the Albert Einstein College of Medicine in New York City, who now works at the personal genomics corporation 23andMe. 'Everyone now wants to know what these variants tell us about human disease.'

As well as providing a useful resource of data about genetic variation, the 1000 Genomes Project has also contributed to advances in technology for DNA sequencing and analysis, which have been vital for the completion of the project.

'We've learned a great deal about how to do genomics on a large scale,' said Professor Gonçalo Abecasis, chair of biostatistics at the University of Michigan in Ann Arbor and joint principal investigator on one of the papers. 'Over the course of the 1000 Genomes Project, we developed new, improved methods for large-scale DNA sequencing, analysis and interpretation of genomic information, in addition to how to store this much data. We learned how to do quality genomic studies in different contexts and parts of the world.'