Functional characterization of human genomic variation linked to polygenic diseases https://www.sciencedirect.com/science/article/pii/S0168952523000549?via%3Dihub
ENCODE:
http://www.nature.com/encode/#/threads
Discovery of distant regulatory elements and computational methods to predict enhancers:
http://www.ncbi.nlm.nih.gov/pubmed/22138689
http://www.ncbi.nlm.nih.gov/pubmed/20657582
http://www.ncbi.nlm.nih.gov/pubmed/20075146
http://www.ncbi.nlm.nih.gov/pubmed/22371081
http://www.ncbi.nlm.nih.gov/pubmed/23236268
Other related publications:
http://www.ncbi.nlm.nih.gov/pubmed/23001124
http://www.ncbi.nlm.nih.gov/pubmed/23328393
http://www.ncbi.nlm.nih.gov/pubmed/23263488
http://www.ncbi.nlm.nih.gov/pubmed/22170606
http://genome.cshlp.org/content/early/2013/04/02/gr.144899.112.abstract
http://genome.cshlp.org/content/early/2013/04/01/gr.152140.112.abstract
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078411/
http://genome.cshlp.org/content/23/1/181.long
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858594/
http://www.ncbi.nlm.nih.gov/pubmed/22304916
http://www.ncbi.nlm.nih.gov/pubmed/22371081
http://www.ncbi.nlm.nih.gov/pubmed/23297233
Update 2023:
Enhancers and super-enhancers:
https://www.nature.com/articles/ng.3167
Silencers:
https://www.cell.com/trends/genetics/fulltext/S0168-9525(21)00047-0
Chromatin interactions:
https://www.cell.com/fulltext/S0092-8674(14)01497-4
Disease risk mutations in regulatory elements:
https://www.cell.com/trends/genetics/fulltext/S0168-9525(21)00047-0
https://www.cell.com/trends/molecular-medicine/fulltext/S1471-4914(21)00197-0
Deep learning:
Prediction of enhancers and regulatory elements:
https://www.nature.com/articles/s41588-022-01102-2
Discovery of disease-risk regulatory mutations:
https://www.nature.com/articles/s41588-019-0420-0
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