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3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk.

Ning LiuTimothy SadlonYing Y WongStephen PedersonJames BreenSimon C Barry
Published in: Epigenetics & chromatin (2022)
We demonstrate that it is possible to further prioritise variants that contribute to T1D based on regulatory function, and illustrate the power of using cell type-specific multi-omics datasets to determine disease mechanisms. Our workflow can be customised to any cell type for which the individual datasets for functional annotation have been generated, giving broad applicability and utility.
Keyphrases
  • rna seq
  • electronic health record
  • transcription factor
  • single cell
  • genome wide
  • copy number
  • big data
  • machine learning
  • dna methylation
  • high density