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.”