Genome-Wide Association Follow-Up Studies

Genome-wide association studies (GWAS) have revolutionized the search for genetic contributions to complex diseases. In fact, there have been more than 900 published genome-wide associations. While these studies have helped define the possible genetic basis of disease, they have only identified a small fraction of heritable genomic variation.

To deepen our understanding of these disease-associated genetic loci, follow-up studies are required to identify rare variants and copy number variations. RainDance Technologies offers the only viable solution for detecting these types of rare genetic variants across contiguous and noncontiguous regions of the genome.

RainDance Technologies provides a superior method for comprehensive and efficient targeted sequencing in next-generation sequencing workflows. The simplicity and speed of the RainStorm™ microdroplet-based PCR technology overcomes the limitations of traditional multiplex amplification and hybridization-capture methods to deliver revolutionary performance and sequencing cost efficiencies. The fully automated and easy-to-use platform provides the ability to look at an entire disease locus using up to 20,000 PCR primer pairs, enabling researchers to determine all sequence variants in contiguous and noncontiguous regions, while avoiding false positives due to highly repetitive or homologous regions.

RDT Platform Advantages

  • Up to 20,000 targeted regions can be interrogated at the same time
  • Sophisticated primer design algorithm capable of interrogating repetitive and highly homologous regions
  • Single-template PCR maintains allelic representation of heterozygous alleles
  • Fully automated and easy-to-use instrumentation
  • More than 1 million PCR reactions per sample
  • Workflow complementary to all current and future sequencing platforms
  • Cost-effective sequencing and simplified data analysis compared to genome-wide approaches

Application Brief Download

TGen“Isolating a large contiguous locus poses a significant challenge for many targeted sequencing methods, mostly due to the large percentage of repetitive elements in the human genome. With the RainDance platform, we could design primers flanking repetitive regions, allowing these repetitive loci to be sequenced with the same efficiency as unique sequences. Our preliminary data suggest that it is one of the most viable solutions for determining all sequence variants in a contiguous locus.”

Matthew Huentelman, Ph.D., Investigator in the Neurobehavioral Research Unit, Translational Genomics Research Institute (TGen).