Complex Trait Mapping

Some mechanisms of disease can only be understood in 3D. With approximately 98% of the human genome being non-coding, over 60% of genomic regions linked to disease phenotypes fall in these non-coding regions. Once referred to as “junk DNA”, it is becoming clear that a plethora of regulatory elements are found within these non-coding regions and many of these elements exert their effects across large distances in the human genome. This can make it difficult to understand disease mechanisms of action using techniques that only investigate DNA sequence alone. Knowing what a particular variant is doing, its impact, and how it drives disease initiation and progression is challenging if you’re only looking in in linear space.

Proximity ligation helps you understand the mechanism of action for a particular phenotype

Are you unable to ascribe function to variants linked to your disease phenotype? Are you finding it challenging to understand the molecular mechanisms that drive the disease? Or are you tired of using correlation to get at causation? Sometimes that’s because the single-nucleotide polymorphism (SNP) is linked to a gene that can be as far as a megabase away! With proximity ligation, you can uncover answers that lie in the three dimensions of chromatin architecture. Find out if regulatory enhances or silencers are interacting with gene promoters far away through a chromatin loop and start piecing together the elements driving disease states.

Proximity ligation kits from Dovetail Genomics® help you see all the dimensions of human disease

With kits like the Dovetail® Micro-C Kit and Dovetail Pan Promoter Enrichment Kits, or services like Fix-C® for FFPE you’ll be able to:

  • Unveil novel mechanisms of action that link disease phenotype to genotype with a 3D lens
  • Uncover the mechanism of disease for genetic variants found in non-coding regions of the genome
  • Power translational research studies by unlocking valuable FFPE material
  • Get a comprehensive view of protein binding & protein-mediated chromatin interactions without any bias due to restriction enzyme density
  • Gather fine-scale, high-resolution topology mapping with an easy workflow that doesn’t require variable-introducing sonication

Featured Resource

Linking Sequence Variation to Chromatin Dynamics through Genome Topology webinar