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ISB and Complete Genomics Partner on Huntington's Disease GWAS

NEW YORK (GenomeWeb News) – The Institute for Systems Biology and Complete Genomics said today that they are conducting a joint large-scale human genome sequencing study of Huntington's disease.

Under the partnership, Complete Genomics will sequence for ISB 100 genomes from Huntington's disease patients, family members, and matched controls to study modifiers of disease presentation and progression.

The comparison of healthy and diseased complete human genome sequences will enable genome-wide association studies with a focus on rare single nucleotide polymorphisms, as well as insertions and deletions that are incompletely accessible with current genome-wide SNP chip technologies, ISB and Complete Genomics said.

The project will be produced by Complete Genomics' newly expanded sequencing facility at its Mountain View, Calif., headquarters, and will be the largest complete human genome disease association conducted to date, the organizations said.

Complete Genomics and ISB first announced that they would collaborate on population-wide human genome studies in October 2008. Complete Genomics said it would first sequence five human genomes from samples provided by ISB as proof of concept, and then expand their partnership to sequence 100 human genomes in 2009 and 2,000 genomes in 2010.

In a statement today, ISB President Leroy Hood said that Complete Genomics sequenced four genomes during the proof-of-concept phase, and that ISB was "pleased with the quality of the raw sequencing data and variations reports," adding that Complete Genomics' sequencing technology "has the requisite accuracy, consistency, and low price point to enable us to begin conducting this large-scale genomic study in this important patient population."