Fifteen Million Differences Among People—1000 Genomes Project Preliminary Results

Today, Nature is publishing the preliminary findings of the 1000 Genomes Project. So far researchers in the project have sequenced 179 individual genomes and have discovered a lot of variation among people, e.g., 15 million single nucleotide polymorphisms (SNPs). SNPs are positions in genomic DNA sequences that vary from one individual to another. SNPs are useful understanding differences in traits among people and for identifying a higher risk of a disease in particular people. As Nature reports:

The long-awaited results from the pilot phase of the first large-scale initiative to sequence individual genomes have identified 95% of the variation found across the human genome and revealed some 15 million gene variants, more than half of which had never been observed before. The data represent the most thorough effort so far to understand the depth of genetic differences between individuals and populations, but the results also highlight the fact that there is still an enormous amount left to learn.

The 1000 Genomes Project, a consortium of researchers from more than 75 universities and companies around the world, two years ago embarked on a mission to catalogue genetic variants — small inter-individual differences in specific regions of the genome — that are found in all human populations. Such differences are quite common, the results of the survey revealed, with each person's genome carrying some 250 or 300 so-called 'loss-of-function' mutations that incapacitate the gene in which they occur.

"That's quite a lot — it's on the order of 1% of all genes," says Richard Durbin, a genomicist at the Wellcome Trust Sanger Institute in Hinxton, UK, and one of the chief architects of the project.

The project aims to eventually sequence the genomes of 2,500 different people drawn from populations all around the world. Nature estimates that some 2,700 human genomes will have been sequenced by the end of this month, rising to 30,000 by the end of next year. In a similar vein, Harvard University geneticist George Church and colleagues are organizing the Personal Genome Project which aims to supply the genomic and phenotypic information of 100,000 volunteers to researchers.

Freeing up genetic information will help advance biomedicine and aid individuals in making choices about their health and lives. See my column, Regulating Personal Genomics to Death, on the FDA's recent efforts to stymie the personal genomics revolution.

Disclosure: I have been accepted as a volunteer in the Personal Genome Project.