1,000 genomes on the way (sort of).

ScienceNOW and ScienceDaily are reporting the announcement of the 1000 Genomes Project, which will be supported by agencies in the UK, China, the US, and elsewhere. It will include analyses of the genomes of 1000 individual humans, and will build upon the International HapMap Project.

ScienceDaily describes the early phases of the project:

In the first phase of the 1000 Genomes Project, lasting about a year, researchers will conduct three pilots. The results of the pilots will be used to decide how to most efficiently and cost effectively produce the project’s detailed map of human genetic variation.

The first pilot will involve sequencing the genomes of two nuclear families (both parents and an adult child) at deep coverage that averages 20 passes of each genome. This will provide a comprehensive dataset from six people that will help the project figure out how to identify variants using the new sequencing platforms, and serve as a basis for comparison for other parts of the effort.

The second pilot will involve sequencing the genomes of 180 people at low coverage that averages two passes of each genome. This will test the ability to use low-coverage data from new sequencing platforms to identify sequence variants and to put them in their genomic context.

The third pilot will involve sequencing the coding regions, called exons, of about 1,000 genes in about 1,000 people. This is aimed at exploring how best to obtain an even more detailed catalog in the approximately 2 percent of the genome that is comprised of protein-coding genes.

So, it’s really six “complete” sequences like those available for Jim Watson and Craig Venter, plus low-redundancy coverage for 180 additional people. Then the rest are subsets of genes (1,000 of around 20,000) from 1,000 people, or about 0.075% of the genome.

Though it isn’t 1000 genomes sensu stricto, it is definitely a very exciting project.



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