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Freely available data supporting next generation of human genetic research

lot projects testing essential aspects of project feasibility

The first pilot project involved sequencing the genomes of six people (two nuclear families each with two parents and a daughter) at high coverage. Each sample was sequenced an average of 20 to 60 times, and using a variety of sequencing technologies. Previous "personal genomes" were each based on only a single sequencing method, and thus were limited to what that method could detect. By using multiple methods, the Project has uncovered not only a more complete picture of DNA variation in these individuals, but also learned about the strengths and limitations of each of the current technologies. These data also served as a comparison group for the genome sequences analysed in the other pilot projects. The six genomes were sequenced by academic centres in China, Germany, the UK, and the US, as well as by three companies, using platforms from the companies: 454 Life Sciences, a Roche company; Applied Biosystems, an Applera Corp. business; and Illumina Inc. All of the platforms were able to sequence 85 to 90 per cent of a genome and produce high-quality data.

The second pilot project sequenced the genomes of 179 people at low coverage an average of three passes of the genome. Although sequencing costs are dropping, it is still very expensive to sequence the genomes of hundreds of people deeply enough to find all of the genetic variants in each genome accurately. An alternative approach is to sequence many genomes at light coverage, and then combine the data from many people to discover genetic variants that they share. The results of the pilot project confirmed that this strategy is effective and will allow the project to meet its goal of discovering sequence variants that are shared with other people.

The third pilot project involved sequencing the coding regions, called exons, of 1,000 genes in about 700 people to explore how best to obtain a detailed catalogue in the

Contact: Don Powell
Wellcome Trust Sanger Institute

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