ISB and Complete Genomics embark on the largest complete human genome disease association study

 The Institute for Systems Biology (ISB) and Complete Genomics Inc. announced today that they are embarking on a large-scale human genome sequencing study of Huntington’s disease (HD). ISB has engaged Complete Genomics to sequence 100 genomes, the majority of which will be used to investigate this disease, with samples from affected individuals, family members, and matched controls to study modifiers of disease presentation and progression.

This will be the largest complete human genome disease association study conducted to date, and will be the first 100-genome study produced by Complete Genomics’ newly expanded sequencing facility. The comparison of healthy and diseased complete human genome sequences will enable genomewide association studies with a focus on rare single nucleotide polymorphisms (SNPs), and insertions and deletions that are incompletely accessible with current genomewide SNP chip technologies. These will include rare variants in protein coding regions of the genome (the “exome”) as well as in regulatory regions.

“It is when we start to look at genomics research on this scale that our sequencing technology really comes into its own and we have the potential to make truly revolutionary discoveries,” said Dr. Clifford Reid, chairman, president and CEO of Complete Genomics. “I am delighted that we have the opportunity to partner with ISB in this effort to discover the genetic variants responsible for modulating the presentation and progress of Huntington’s disease.”

ISB President Dr. Leroy Hood said, “We were pleased with the quality of the raw sequencing data and variations reports that Complete Genomics generated for our four-genome pilot project earlier this year. Its 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.”

Huntington's disease is a devastating, hereditary, degenerative brain disorder for which there is, at present, no effective treatment or cure, according to the Huntington’s Disease Society of America. The Society adds that HD affects one out of every 10,000 Americans, slowly diminishing the affected individual’s ability to walk, think, talk and reason.

For this study, ISB will supply the purified DNA samples and Complete Genomics will sequence and identify variations for each genome. ISB will then do the genetic analysis at the sequence level.

SOURCE Institute for Systems Biology