1000 Genomes Project

On January 22, 2008, an international consortium of genome sequencing centers announced the 1000 Genomes Project. The goal of the project is to obtain the sequences of 1000 human genomes. Currently, sequences of three human genomes are publicly available.

The press release details the goals of the project, which are to:

  • develop a new, highly detailed map of variation in the human genome, a resource that should enable the association of variation of single nucleotide polymorphisms with diseases
  • use new DNA sequencing technologies to reduce the cost of the sequencing effort to only $30-50 million

However, no medical information will be available for the persons whose genomes will be sequenced. This seems to negate the value of a lot of the data, since there will be no way to identify associations of SNPs with specific genetic disorders.

The first phase of the project will involve three pilot studies. In the first pilot study, the project will obtain the sequences of six genomes at 20x coverage from two families using new sequencing technologies. This will provide working experience with the new technologies and will enable the project to choose which sequencing method to move forward with.

In the second pilot study, the project will obtain 2x coverage of 180 genomes to provide experience with data management and interpretation.

The third pilot study will focus on obtaining the sequences of the exons of approximately 1000 genes from 1000 people. This study will provide additional experience in data management and interpretation.

The project will then move on to the production phase, which will take two years. The project leaders anticipate a sequencing throughput of more than 8 billion bases per day. It will be extremely challenging to capture and analyze so much data.

February 25 2008 09:28 pm | Biology

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