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Investigating the role of non-B DNA structures in human health and rare conditions

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Lay summary

DNA is classically envisaged as a double helix with two winding staircases.  This is true for most DNA, however, we do know that some parts of the genome can form different structures.  These structures were thought to be by-products of replication and transcription however have now become recognised as important structures for gene regulation.  These structures tend to occur outside of the coding regions of genes and are not not usually included in the analysis of whole genome sequencing data in the NHS.

It is not known how important these structures are in rare conditions in humans but given that nearly 50% of individuals with rare conditions who have whole genome sequencing do not achieve a diagnosis, it is likely that these structures may have a role to play.  We plan to systemically collate all regions of the genome which can form these structures and then look for genetic changes in these regions in individuals from 100KGP.  We hope that this will help in identifying new diagnoses and possibly new treatments.

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